{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106852",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1939,
          "referenceAllele": "R",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_919224.1:p.Arg1939Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA212844",
          "hgvs": "NM_194248.3:c.5816G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21175[alleleid]",
        "alleleId": 21175,
        "preferredName": "NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6136",
        "RCV": [
          "RCV000006510",
          "RCV000021073",
          "RCV003480023"
        ],
        "variationId": 6136
      }
    ]
  },
  "type": "amino-acid"
}