Sequence-genetics-example5.xml

Example for amino acid variant from experiment (id = "seq5")

<Sequence xmlns="http://hl7.org/fhir">
    <id value="seq5"/>
    <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: seq5</p><p><b>type</b>: AA</p><p><b>referenceSeq</b>: ENSP00000252486 <span>(Details : {http://www.ensembl.org/ code 'ENSP00000252486' = '??)</span></p><h3>Coordinates</h3><table><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td></tr><tr><td>*</td><td>46</td><td>47</td></tr></table><p><b>species</b>: Homo sapiens <span>(Details : {SNOMED CT code '337915000' = '??)</span></p><p><b>observedAllele</b>: L</p><p><b>referenceAllele</b>: P</p></div></text><type value="AA"/>
    <referenceSeq>
        <coding>
            <system value="http://www.ensembl.org/"/>
            <code value="ENSP00000252486"/>
        </coding>
        <text value="ENSP00000252486"/>
    </referenceSeq>
    <coordinate>
        <start value="46"/>
        <end value="47"/>
    </coordinate>
    <species>
        <coding>
            <system value="http://snomed.info/sct"/>
            <code value="337915000"/>
        </coding>
        <text value="Homo sapiens"/>
    </species>
    <observedAllele value="L"/>
    <referenceAllele value="P"/>
</Sequence>