{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830430608",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Cys121Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020418",
          "hgvs": "NM_198156.3:c.362G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2740090901",
          "hgvs": "NM_198156.3:c.362_363delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52773[alleleid]",
        "alleleId": 52773,
        "preferredName": "NM_000551.4(VHL):c.485G>T (p.Cys162Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3113298[alleleid]",
        "alleleId": 3113298,
        "preferredName": "NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43604",
        "RCV": [
          "RCV000036548",
          "RCV002513389"
        ],
        "variationId": 43604
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2951902",
        "RCV": [
          "RCV003812589"
        ],
        "variationId": 2951902
      }
    ]
  },
  "type": "amino-acid"
}