{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3089184069",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "S",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NP_665861.1:p.Ser399Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411096242",
          "hgvs": "NM_145862.2:c.1196C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4342718[alleleid]",
        "alleleId": 4342718,
        "preferredName": "NM_007194.4(CHEK2):c.1283C>G (p.Ser428Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4228006",
        "RCV": [
          "RCV005808003"
        ],
        "variationId": 4228006
      }
    ]
  },
  "type": "amino-acid"
}