{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830431064",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "RRFLLKLTLFHLSF",
          "end": 172,
          "referenceAllele": "",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Asp172_Ter173insArgArgPheLeuLeuLysLeuThrLeuPheHisLeuSerPhe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351756718",
          "hgvs": "NM_198156.3:c.517T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351756719",
          "hgvs": "NM_198156.3:c.517T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790313[alleleid]",
        "alleleId": 790313,
        "preferredName": "NM_000551.4(VHL):c.640T>A (p.Ter214Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3112157[alleleid]",
        "alleleId": 3112157,
        "preferredName": "NM_000551.4(VHL):c.640T>C (p.Ter214Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801933",
        "RCV": [
          "RCV000987111",
          "RCV001025239",
          "RCV002550599"
        ],
        "variationId": 801933
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2952480",
        "RCV": [
          "RCV003815631"
        ],
        "variationId": 2952480
      }
    ]
  },
  "type": "amino-acid"
}