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Example MolecularDefinition/example-sequence-cyp2c19-upstream-region (Turtle)

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

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

Example of Sequence profile of CYP2C19 upstream region

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

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

[a fhir:MolecularDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-sequence-cyp2c19-upstream-region"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/StructureDefinition/sequence"^^xsd:anyURI ;
       fhir:link <http://hl7.org/fhir/StructureDefinition/sequence>
     ] )
  ] ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:representation ( [
     fhir:extracted [
       fhir:startingMolecule [
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-cyp2c19-accession" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10" ]
       ] ;
       fhir:start [ fhir:v "1"^^xsd:integer ] ;
       fhir:end [ fhir:v "5000"^^xsd:integer ] ;
       fhir:coordinateSystem [
         fhir:coding ( [
           a loinc:LA30100-4 ;
           fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
           fhir:code [ fhir:v "LA30100-4" ] ;
           fhir:display [ fhir:v "0-based interval counting" ]
         ] ) ;
         fhir:text [ fhir:v "0-based interval counting" ]
       ] ;
       fhir:reverseComplement [ fhir:v "false"^^xsd:boolean ]
     ]
  ] )] . # 

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


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.