{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827474922",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 117,
          "referenceAllele": "R",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NP_001336885.1:p.Arg117Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411108198",
          "hgvs": "NM_001349956.2:c.349A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1789048[alleleid]",
        "alleleId": 1789048,
        "preferredName": "NM_007194.4(CHEK2):c.349A>T (p.Arg117Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1732016",
        "RCV": [
          "RCV002459102",
          "RCV003500708"
        ],
        "variationId": 1732016
      }
    ]
  },
  "type": "amino-acid"
}