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

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

Raw Turtle (+ also see Turtle/RDF Format Specification)

Example of Allele including slices for CYP2C19 position 1016 with contained resources

@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

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

# -------------------------------------------------------------------------------------


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.