{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102369",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40,
          "referenceAllele": "R",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NP_000522.3:p.Arg40Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA090910",
          "hgvs": "NM_000531.6:c.118C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147066"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26052[alleleid]",
        "alleleId": 26052,
        "preferredName": "NM_000531.6(OTC):c.118C>T (p.Arg40Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11013",
        "RCV": [
          "RCV000011760",
          "RCV000083332"
        ],
        "variationId": 11013
      }
    ]
  },
  "type": "amino-acid"
}