{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826821276",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 598,
          "referenceAllele": "R",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008516",
      "geneNCBI_id": 340990,
      "geneSymbol": "OTOG",
      "hgvs": [
        "NP_001278992.1:p.Arg598His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA218504251",
          "hgvs": "NM_001292063.2:c.1793G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164932"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=497188[alleleid]",
        "alleleId": 497188,
        "preferredName": "NM_001292063.2(OTOG):c.1793G>A (p.Arg598His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/517260",
        "RCV": [
          "RCV000612114"
        ],
        "variationId": 517260
      }
    ]
  },
  "type": "amino-acid"
}