{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379096151", "communityStandardTitle": [ "NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2169279[alleleid]", "alleleId": 2169279, "preferredName": "NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2103629", "RCV": [ "RCV003022249" ], "variationId": 2103629 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1778708T>A?assembly=hg19", "id": "chr11:g.1778708T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1757478T>A?assembly=hg38", "id": "chr11:g.1757478T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2493823652", "rs": 2493823652 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1757478, 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