{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108577",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 115,
          "referenceAllele": "H",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_000542.1:p.His115Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351753631",
          "hgvs": "NM_000551.4:c.345C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351753634",
          "hgvs": "NM_000551.4:c.345C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147086"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=487009[alleleid]",
        "alleleId": 487009,
        "preferredName": "NM_000551.4(VHL):c.345C>G (p.His115Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=487024[alleleid]",
        "alleleId": 487024,
        "preferredName": "NM_000551.4(VHL):c.345C>A (p.His115Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496057",
        "RCV": [
          "RCV000588324",
          "RCV001044333"
        ],
        "variationId": 496057
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496058",
        "RCV": [
          "RCV000590032"
        ],
        "variationId": 496058
      }
    ]
  },
  "type": "amino-acid"
}