{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645505995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "R",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_056258.1:p.Arg299Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315243",
          "hgvs": "NM_015443.4:c.895C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174558"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203426[alleleid]",
        "alleleId": 203426,
        "preferredName": "NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205808",
        "RCV": [
          "RCV000187796",
          "RCV000624715",
          "RCV001342875"
        ],
        "variationId": 205808
      }
    ]
  },
  "type": "amino-acid"
}