FHIR CI-Build

This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions

Example MolecularDefinition/example-allelesliced-cyp2c19-1016-cont (XML)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

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

Example of Allele including slices for CYP2C19 position 1016 with contained resources (id = "example-allelesliced-cyp2c19-1016-cont")

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

<MolecularDefinition xmlns="http://hl7.org/fhir">
  <id value="example-allelesliced-cyp2c19-1016-cont"/> 
  <contained> 
    <MolecularDefinition> 
      <id value="example-sequence-nm0007694-acc"/> 
      <moleculeType> 
        <coding> 
          <system value="http://hl7.org/fhir/sequence-type"/> 
          <code value="rna"/> 
          <display value="RNA Sequence"/> 
        </coding> 
      </moleculeType> 
      <representation> 
        <code> 
          <coding> 
            <system value="http://www.ncbi.nlm.nih.gov/refseq"/> 
            <code value="NM_000769.4"/> 
            <display value="Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), mRNA"/> 
          </coding> 
        </code> 
      </representation> 
    </MolecularDefinition> 
  </contained> 
  <moleculeType> 
    <coding> 
      <system value="http://hl7.org/fhir/sequence-type"/> 
      <code value="rna"/> 
      <display value="RNA Sequence"/> 
    </coding> 
  </moleculeType> 
  <location> 
    <sequenceLocation> 
      <sequenceContext> 
        <reference value="#example-sequence-nm0007694-acc"/> 
        <type value="MolecularDefinition"/> 
        <display value="Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"/> 
      </sequenceContext> 
      <coordinateInterval> 
        <coordinateSystem> 
          <system> 
            <coding> 
              <system value="http://loinc.org"/> 
              <code value="LA30102-0"/> 
              <display value="1-based character counting"/> 
            </coding> 
            <text value="1-based character counting"/> 
          </system> 
        </coordinateSystem> 
        <startQuantity> 
          <value value="1016"/> 
        </startQuantity> 
        <endQuantity> 
          <value value="1016"/> 
        </endQuantity> 
      </coordinateInterval> 
    </sequenceLocation> 
  </location> 
  <representation> 
    <focus> 
      <coding> 
        <code value="allele-state"/> 
        <display value="Allele State"/> 
      </coding> 
    </focus> 
    <code> 
      <coding> 
        <system value="https://www.pharmvar.org"/> 
        <version value="6.2"/> 
        <code value="PV00076"/> 
        <display value="CYP2C19*1.002"/> 
      </coding> 
    </code> 
    <literal> 
      <value value="G"/> 
    </literal> 
  </representation> 
  <representation> 
    <focus> 
      <coding> 
        <code value="context-state"/> 
        <display value="Context State"/> 
      </coding> 
    </focus> 
    <literal> 
      <value value="A"/> 
    </literal> 
  </representation> 
</MolecularDefinition> 

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.