{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830430565",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 117,
          "referenceAllele": "L",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Leu117Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351756068",
          "hgvs": "NM_198156.3:c.349C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=559265[alleleid]",
        "alleleId": 559265,
        "preferredName": "NM_000551.4(VHL):c.472C>G (p.Leu158Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567944",
        "RCV": [
          "RCV000688156",
          "RCV001575396",
          "RCV002334267"
        ],
        "variationId": 567944
      }
    ]
  },
  "type": "amino-acid"
}