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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.2:c.3565T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Cys1189Arg",
        "hgvsWellDefined": "NP_001184033.1:p.Cys1189Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.3565T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.3565T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Cys1189Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Cys1189Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009846",
      "coordinates": [
        {
          "allele": "C",
          "end": 3586,
          "referenceAllele": "T",
          "start": 3585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.4:c.3565T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Cys1189Arg",
        "hgvsWellDefined": "NP_005924.2:p.Cys1189Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696566"
    }
  ],
  "type": "nucleotide"
}