{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573090857",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 198,
          "referenceAllele": "R",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015840",
      "geneNCBI_id": 9757,
      "geneSymbol": "KMT2B",
      "hgvs": [
        "NP_055542.1:p.Arg198Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA405379391",
          "hgvs": "NM_014727.3:c.592C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173949"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1293122[alleleid]",
        "alleleId": 1293122,
        "preferredName": "NM_014727.3(KMT2B):c.592C>T (p.Arg198Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1302841",
        "RCV": [
          "RCV001762908"
        ],
        "variationId": 1302841
      }
    ]
  },
  "type": "amino-acid"
}