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          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007370",
      "geneNCBI_id": 10943,
      "geneSymbol": "MSL3",
      "hgvs": [
        "NM_078628.2:c.1173T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_523352.1:p.Ser391Arg",
        "hgvsWellDefined": "NP_523352.1:p.Ser391Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729028"
    }
  ],
  "type": "nucleotide"
}