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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.8241C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser2747Arg",
        "hgvsWellDefined": "NP_003473.3:p.Ser2747Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.8241C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.8241C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser2747Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser2747Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}