{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA387548349", "communityStandardTitle": [ "NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1782939[alleleid]", "alleleId": 1782939, "preferredName": "NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725412", "RCV": [ "RCV002309096" ], "variationId": 1725412 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.23929296C>T?assembly=hg19", "id": "chr13:g.23929296C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.23355157C>T?assembly=hg38", "id": "chr13:g.23355157C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2542396639", "rs": 2542396639 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 23355157, 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