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      "proteinEffect": {
        "hgvs": "NP_001108409.1:p.Cys42Ter",
        "hgvsWellDefined": "NP_001108409.1:p.Cys42_Pro125delinsLeuCysValLeuTyrHisGlyTyrIleTyrThrTyrArgValSerGlnThrGluThrGlySerTrpSerAlaGluThrAlaProGlyValHisLysArgTyrPheArgLysIleLysAsnLeuIleSerAlaPheGlnLysProAspGlnGlyIleValIleProLeuGlnTyrProValGluLysLysSerSerAlaArgSerThrGlnGlyIleArgGluAspProAspValCysLeuLysAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712134"
    }
  ],
  "type": "nucleotide"
}