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      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.1939C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Gln647Ter",
        "hgvsWellDefined": "NP_001290347.1:p.Gln647_Lys718delinsLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}