{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117631",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "I",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NP_009125.1:p.Ile157Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117630",
          "hgvs": "NM_007194.4:c.470T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172659"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20630[alleleid]",
        "alleleId": 20630,
        "preferredName": "NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5591",
        "RCV": [
          "RCV000005936",
          "RCV000120555",
          "RCV000144596",
          "RCV000116018",
          "RCV000212410",
          "RCV000210131",
          "RCV000626718",
          "RCV001535774",
          "RCV001358111",
          "RCV001797993",
          "RCV002054420",
          "RCV002254675",
          "RCV003224091",
          "RCV003333685",
          "RCV003447470",
          "RCV004528085"
        ],
        "variationId": 5591
      }
    ]
  },
  "type": "amino-acid"
}