{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139694870",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "R",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NP_001278.1:p.Arg280Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394190459",
          "hgvs": "NM_001287.6:c.838C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=874718[alleleid]",
        "alleleId": 874718,
        "preferredName": "NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/887536",
        "RCV": [
          "RCV001120326",
          "RCV002556579"
        ],
        "variationId": 887536
      }
    ]
  },
  "type": "amino-acid"
}