{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826695680",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82,
          "referenceAllele": "R",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_001274418.1:p.Arg82Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142803",
          "hgvs": "NM_001287489.2:c.244C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2740092766",
          "hgvs": "NM_001287489.2:c.243_244delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163820"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34688[alleleid]",
        "alleleId": 34688,
        "preferredName": "NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3164560[alleleid]",
        "alleleId": 3164560,
        "preferredName": "NM_194248.3(OTOF):c.243_244delinsTT (p.Arg82Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21836",
        "RCV": [
          "RCV000021048",
          "RCV000041497",
          "RCV002054461"
        ],
        "variationId": 21836
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3003026",
        "RCV": [
          "RCV003860617"
        ],
        "variationId": 3003026
      }
    ]
  },
  "type": "amino-acid"
}