Release 4B Snapshot #1

This page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3

Sequence-example-TPMT-one.xml

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

Raw XML (canonical form + also see XML Format Specification)

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Example of a TPMT SNP data that support a haplotype observation (id = "example-TPMT-one")

<?xml version="1.0" encoding="UTF-8"?>

<MolecularSequence xmlns="http://hl7.org/fhir">
    <id value="example-TPMT-one"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <div> <p> Resource &quot;example-TPMT-one&quot; </p> </div> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 1</p> <p> <b> patient</b> : <a> Patient/example</a>  &quot;Peter CHALMERS&quot;</p> <h3> ReferenceSeqs</h3> <table> <tr> <td> -</td> <td> <b> ReferenceSeqId</b> </td> <td> <b> Strand</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> NT_007592.15 <span>  (nuccore#NT_007592.15)</span> </td> <td> watson</td> <td> 18130918</td> <td> 18143955</td> </tr> </table> <h3> Variants</h3> <table> <tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ObservedAllele</b> </td> <td> <b> ReferenceAllele</b> </td> </tr> <tr> <td> *</td> <td> 18139214</td> <td> 18139214</td> <td> A</td> <td> G</td> </tr> </table> <p> <b> observedSeq</b> : T-C-C-C-A-C-C-C</p> </div> </text> <type value="dna"/> 
    <coordinateSystem value="1"/> 
    <patient> 
        <reference value="Patient/example"/> 
    </patient> 
    <referenceSeq> 
        <referenceSeqId> 
          <coding> 
            <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> 
            <code value="NT_007592.15"/> 
          </coding> 
        </referenceSeqId> 
        <strand value="watson"/> 
        <windowStart value="18130918"/> 
        <windowEnd value="18143955"/> 
    </referenceSeq> 
    <variant> 
        <start value="18139214"/> 
        <end value="18139214"/> 
        <observedAllele value="A"/> 
        <referenceAllele value="G"/> 
    </variant> 
    <observedSeq value="T-C-C-C-A-C-C-C"/> 
</MolecularSequence> 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.