{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139765077",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82,
          "referenceAllele": "R",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Arg82Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351750541",
          "hgvs": "NM_198156.3:c.244C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=931673[alleleid]",
        "alleleId": 931673,
        "preferredName": "NM_000551.4(VHL):c.244C>T (p.Arg82Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/933618",
        "RCV": [
          "RCV001201863",
          "RCV002447048"
        ],
        "variationId": 933618
      }
    ]
  },
  "type": "amino-acid"
}