{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499303378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 62,
          "referenceAllele": "V",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Val62Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351748731",
          "hgvs": "NM_198156.3:c.184G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351748734",
          "hgvs": "NM_198156.3:c.184G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=989138[alleleid]",
        "alleleId": 989138,
        "preferredName": "NM_000551.4(VHL):c.184G>C (p.Val62Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4868819[alleleid]",
        "alleleId": 4868819,
        "preferredName": "NM_000551.4(VHL):c.184G>T (p.Val62Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/999514",
        "RCV": [
          "RCV001295524",
          "RCV002411940"
        ],
        "variationId": 999514
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4757485",
        "RCV": [
          "RCV006554318"
        ],
        "variationId": 4757485
      }
    ]
  },
  "type": "amino-acid"
}