{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827926746",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 70,
          "referenceAllele": "E",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_001341652.1:p.Glu70Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351748955",
          "hgvs": "NM_001354723.2:c.208G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618348"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=827284[alleleid]",
        "alleleId": 827284,
        "preferredName": "NM_000551.4(VHL):c.208G>C (p.Glu70Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/847948",
        "RCV": [
          "RCV001051596"
        ],
        "variationId": 847948
      }
    ]
  },
  "type": "amino-acid"
}