{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645506823",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 594,
          "referenceAllele": "R",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_001180395.1:p.Arg594His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16607703",
          "hgvs": "NM_001193466.2:c.1781G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156866"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376190[alleleid]",
        "alleleId": 376190,
        "preferredName": "NM_015443.4(KANSL1):c.1781G>A (p.Arg594His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379692",
        "RCV": [
          "RCV000436315",
          "RCV003642886"
        ],
        "variationId": 379692
      }
    ]
  },
  "type": "amino-acid"
}