{ "description": "HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard. (source: varnomen.hgvs.org)", "compose": { "include": [ { "system": "http://varnomen.hgvs.org" } ] }, "_filename": "ValueSet-hgvs-vs.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2024-12-12T20:43:36+00:00", "publisher": "HL7 International / Clinical Genomics", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "HGVSVS", "type": null, "experimental": "false", "resourceType": "ValueSet", "title": "Human Genome Variation Society (HGVS) Nomenclature", "package_version": "3.0.0", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" } ], "status": "active", "id": "f99cf059-6c40-4d2d-ad88-2feef281aa03", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs", "version": "3.0.0", "contact": [ { "name": "HL7 International / Clinical Genomics", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }