{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA344699",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "I",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_919224.1:p.Ile1573Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344698",
          "hgvs": "NM_194248.3:c.4718T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57404[alleleid]",
        "alleleId": 57404,
        "preferredName": "NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48240",
        "RCV": [
          "RCV000041550",
          "RCV000211733",
          "RCV001778685",
          "RCV001730485",
          "RCV003556117"
        ],
        "variationId": 48240
      }
    ]
  },
  "type": "amino-acid"
}