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      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.1420C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Arg474Trp",
        "hgvsWellDefined": "NP_001341559.1:p.Arg474Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}