{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830431032",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 170,
          "referenceAllele": "M",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Met170Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020534",
          "hgvs": "NM_198156.3:c.508A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351756697",
          "hgvs": "NM_198156.3:c.508A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180125[alleleid]",
        "alleleId": 180125,
        "preferredName": "NM_000551.4(VHL):c.631A>C (p.Met211Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1801257[alleleid]",
        "alleleId": 1801257,
        "preferredName": "NM_000551.4(VHL):c.631A>T (p.Met211Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182990",
        "RCV": [
          "RCV000161101",
          "RCV000287076",
          "RCV000541199",
          "RCV001025130",
          "RCV001704152"
        ],
        "variationId": 182990
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1752824",
        "RCV": [
          "RCV002368852"
        ],
        "variationId": 1752824
      }
    ]
  },
  "type": "amino-acid"
}