{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830423918",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_919303.1:p.Ala274Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345110",
          "hgvs": "NM_194322.3:c.821C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76701[alleleid]",
        "alleleId": 76701,
        "preferredName": "NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65793",
        "RCV": [
          "RCV000056032",
          "RCV001730489"
        ],
        "variationId": 65793
      }
    ]
  },
  "type": "amino-acid"
}