{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916009860",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NP_005924.2:p.Cys1448Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA382831726",
          "hgvs": "NM_005933.4:c.4343G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171524"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415250[alleleid]",
        "alleleId": 415250,
        "preferredName": "NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426928",
        "RCV": [
          "RCV000489772",
          "RCV001376037"
        ],
        "variationId": 426928
      }
    ]
  },
  "type": "amino-acid"
}