{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830425023",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1172,
          "referenceAllele": "R",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_919304.1:p.Arg1172Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1562638",
          "hgvs": "NM_194323.3:c.3515G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=539468[alleleid]",
        "alleleId": 539468,
        "preferredName": "NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/548986",
        "RCV": [
          "RCV000663404",
          "RCV003420162",
          "RCV003542310",
          "RCV003984844"
        ],
        "variationId": 548986
      }
    ]
  },
  "type": "amino-acid"
}