{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA357080",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "W",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_000542.1:p.Trp88Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357078",
          "hgvs": "NM_000551.4:c.264G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351750678",
          "hgvs": "NM_000551.4:c.264G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147086"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224902[alleleid]",
        "alleleId": 224902,
        "preferredName": "NM_000551.4(VHL):c.264G>T (p.Trp88Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=558732[alleleid]",
        "alleleId": 558732,
        "preferredName": "NM_000551.4(VHL):c.264G>C (p.Trp88Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223171",
        "RCV": [
          "RCV000208827",
          "RCV000492552",
          "RCV000537014"
        ],
        "variationId": 223171
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/580847",
        "RCV": [
          "RCV000704506"
        ],
        "variationId": 580847
      }
    ]
  },
  "type": "amino-acid"
}