<?xml version="1.0" encoding="UTF-8"?><Observation xmlns="http://hl7.org/fhir"><id value="genetics-example2-germline"/><text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example2-germline</p><p><b>status</b>: final</p><p><b>code</b>: BRCA1 gene mutation analysis <span>(Details : {LOINC code &#39;21636-6&#39; = &#39;BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal&#39;, given as &#39;BRCA1 gene mutation analysis&#39;})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p></div></text><extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomeBuild"><valueString value="GRCh 37"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsChromosome"><valueCodeableConcept><coding><system value="http://www.ncbi.nlm.nih.gov/gene"/><code value="NC_000017"/></coding><text value="Homo sapiens chromosome 17"/></valueCodeableConcept></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomicStart"><valueInteger value="41258504"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomicStop"><valueInteger value="41258505"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsReferenceAllele"><valueString value="A"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsObservedAllele"><valueString value="C"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsGene"><valueCodeableConcept><coding><system value="http://www.genenames.org"/><code value="1100"/><display value="BRCA1"/></coding></valueCodeableConcept></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariation"><valueString value="c.181T&gt;G"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsVariationId"><valueCodeableConcept><coding><system value="http://www.ncbi.nlm.nih.gov/clinvar"/><code value="17661"/><display value="c.181T&gt;G"/></coding></valueCodeableConcept></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName"><valueString value="Exon 4"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariationType"><valueCodeableConcept><coding><system value="http://loinc.org"/><code value="LA6690-7"/><display value="Substitution"/></coding></valueCodeableConcept></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange"><valueString value="p.Cys61Gly"/></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomicSourceClass"><valueCodeableConcept><coding><system value="http://loinc.org"/><code value="LA6683-2"/><display value="Germline"/></coding></valueCodeableConcept></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsSpecies"><valueCodeableConcept><coding><system value="http://snomed.info/sct"/><code value="337915000"/></coding><text value="Homo sapiens"/></valueCodeableConcept></extension><extension url="http://hl7.org/fhir/StructureDefinition/geneticsCIGAR"><valueString value="1M"/></extension><status value="final"/><code><coding><system value="http://loinc.org"/><code value="21636-6"/><display value="BRCA1 gene mutation analysis"/></coding></code><subject><reference value="Patient/genetics-example2-germline"/><display value="Molecular Lab Patient ID: HOSP-23456"/></subject><performer><reference value="Practitioner/genetics-example2-germline"/><display value="Molecular Diagnostic Laboratory"/></performer><specimen><reference value="Specimen/genetics-example2-germline"/><display value="Molecular Specimen ID: MLD45-Z4-1234"/></specimen></Observation>