{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827478235",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NP_001336885.1:p.Thr409Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA288282",
          "hgvs": "NM_001349956.2:c.1226C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133517[alleleid]",
        "alleleId": 133517,
        "preferredName": "NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128060",
        "RCV": [
          "RCV000116001",
          "RCV000210077",
          "RCV000198554",
          "RCV000317389",
          "RCV000259876",
          "RCV000499890",
          "RCV000778653",
          "RCV000212465",
          "RCV001357877",
          "RCV001564016",
          "RCV001798351",
          "RCV004528804",
          "RCV003444200",
          "RCV001572627"
        ],
        "variationId": 128060
      }
    ]
  },
  "type": "amino-acid"
}