{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057583168",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 347,
          "referenceAllele": "D",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NP_009125.1:p.Asp347His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411097728",
          "hgvs": "NM_007194.4:c.1039G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172659"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3861909[alleleid]",
        "alleleId": 3861909,
        "preferredName": "NM_007194.4(CHEK2):c.1039G>C (p.Asp347His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3728974",
        "RCV": [
          "RCV005205285"
        ],
        "variationId": 3728974
      }
    ]
  },
  "type": "amino-acid"
}