{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827926724",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 65,
          "referenceAllele": "S",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_001341652.1:p.Ser65Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020099",
          "hgvs": "NM_001354723.2:c.194C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618348"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52766[alleleid]",
        "alleleId": 52766,
        "preferredName": "NM_000551.4(VHL):c.194C>G (p.Ser65Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43597",
        "RCV": [
          "RCV000036539",
          "RCV000497340",
          "RCV001219547",
          "RCV002415465"
        ],
        "variationId": 43597
      }
    ]
  },
  "type": "amino-acid"
}