{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA345116",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1090,
          "referenceAllele": "A",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NP_919224.1:p.Ala1090Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345115",
          "hgvs": "NM_194248.3:c.3269C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76705[alleleid]",
        "alleleId": 76705,
        "preferredName": "NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65797",
        "RCV": [
          "RCV000056036"
        ],
        "variationId": 65797
      }
    ]
  },
  "type": "amino-acid"
}