{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA142743",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 490,
          "referenceAllele": "P",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_919224.1:p.Pro490Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142742",
          "hgvs": "NM_194248.3:c.1469C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57334[alleleid]",
        "alleleId": 57334,
        "preferredName": "NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48170",
        "RCV": [
          "RCV000041460",
          "RCV003114220",
          "RCV003556115",
          "RCV003430650"
        ],
        "variationId": 48170
      }
    ]
  },
  "type": "amino-acid"
}