{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA162748",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 36,
          "referenceAllele": "R",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "NP_000544.2:p.Arg36Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162746",
          "hgvs": "NM_000553.6:c.107G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147088"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139171[alleleid]",
        "alleleId": 139171,
        "preferredName": "NM_000553.6(WRN):c.107G>A (p.Arg36Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135432",
        "RCV": [
          "RCV000122289",
          "RCV000733018",
          "RCV001085837",
          "RCV003315785",
          "RCV003925216"
        ],
        "variationId": 135432
      }
    ]
  },
  "type": "amino-acid"
}