{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830430976",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 159,
          "referenceAllele": "R",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Arg159Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020510",
          "hgvs": "NM_198156.3:c.475C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17271[alleleid]",
        "alleleId": 17271,
        "preferredName": "NM_000551.4(VHL):c.598C>T (p.Arg200Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2232",
        "RCV": [
          "RCV000002320",
          "RCV000122262",
          "RCV000148922",
          "RCV000161094",
          "RCV000574264",
          "RCV000627742",
          "RCV000722031",
          "RCV002247239"
        ],
        "variationId": 2232
      }
    ]
  },
  "type": "amino-acid"
}