{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830430604",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Cys121Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357016",
          "hgvs": "NM_198156.3:c.363C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224957[alleleid]",
        "alleleId": 224957,
        "preferredName": "NM_000551.4(VHL):c.486C>G (p.Cys162Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223227",
        "RCV": [
          "RCV000208792",
          "RCV000226031",
          "RCV000567560",
          "RCV000679043"
        ],
        "variationId": 223227
      }
    ]
  },
  "type": "amino-acid"
}