{ "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.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2021-04-13T19:13:37+00:00", "publisher": "HL7 International Clinical Genomics Work Group", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm" } ] } ], "name": "HGVSVS", "type": null, "experimental": null, "resourceType": "ValueSet", "title": "Human Genome Variation Society (HGVS) Nomenclature", "package_version": "1.1.0", "status": "active", "id": "fc5b8c0f-8359-4eaf-8572-6c018bab8a28", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs", "version": "1.1.0", "contact": [ { "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" } ] } ] }