Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

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• TTL

: Molecular Definition Variation PGx Variant 1014

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@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 -------------------------------------------------------------------

 a fhir:MolecularDefinition ;
  fhir:resourceDefinition http://hl7.org/fhir/StructureDefinition/MolecularDefinition|0.1.0-ci-build ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-variation-pgx-var-1014"] ; # 
  fhir:language [ fhir:v "en"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\" xml:lang=\"en\" lang=\"en\"><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition example-variation-pgx-var-1014</b></p><a name=\"example-variation-pgx-var-1014\"> </a><a name=\"hcexample-variation-pgx-var-1014\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Language: en</p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype dna}\">DNA sequence</span></p><blockquote><p><b>location</b></p><blockquote><p><b>sequenceLocation</b></p><p><b>sequenceContext</b>: <a href=\"MolecularDefinition-example-sequence-nc00001010-url.html\">Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10</a></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></td></tr></table><p><b>start</b>: 96535210</p><p><b>end</b>: 96535210</p></blockquote></blockquote></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: Reference State</p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>G</td></tr></table></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: Alternative State</p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>G</td></tr></table></blockquote></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:moleculeType [
    ( fhir:coding [
fhir:system [
fhir:v "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype>       ] ;
fhir:code [ fhir:v "dna" ] ;
fhir:display [ fhir:v "DNA sequence" ]     ] )
  ] ; # 
  fhir:location ( [
fhir:sequenceLocation [
fhir:sequenceContext [
fhir:l fhir:MolecularDefinition/example-sequence-nc00001010-url ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-nc00001010-url" ] ;
fhir:type [
fhir:v "MolecularDefinition"^^xsd:anyURI ;
fhir:l fhir:MolecularDefinition         ] ;
fhir:display [ fhir:v "Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10" ]       ] ;
fhir:coordinateInterval [
fhir:coordinateSystem [
fhir:system [
            ( fhir:coding [
a loinc:LA30102-0 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>               ] ;
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 "96535210"^^xsd:decimal ]         ] ;
fhir:end [
a fhir:Quantity ;
fhir:value [ fhir:v "96535210"^^xsd:decimal ]         ]       ]     ]
  ] ) ; # 
  fhir:representation ( [
fhir:focus [ fhir:v "reference-state" ] ;
fhir:literal [
fhir:value [ fhir:v "G" ]     ]
  ] [
fhir:focus [ fhir:v "alternative-state" ] ;
fhir:literal [
fhir:value [ fhir:v "G" ]     ]
  ] ) . #