{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499272236",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 809,
          "referenceAllele": "S",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NP_005924.2:p.Ser809Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229521926",
          "hgvs": "NM_005933.4:c.2426C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171524"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1172195[alleleid]",
        "alleleId": 1172195,
        "preferredName": "NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1183591",
        "RCV": [
          "RCV001541465",
          "RCV002568253"
        ],
        "variationId": 1183591
      }
    ]
  },
  "type": "amino-acid"
}