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        "NM_032822.3:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116211.2:p.Gln76Ter",
        "hgvsWellDefined": "NP_116211.2:p.Gln76_Lys138delinsAspArgLeuAlaArgCysThrMetHisCysAsnAspLysAlaLysAspSerIleAspAlaGlySerLysGluLeuGlnValLysGlnGlnLeuAspSerCysValThrLysCysValAspAspHisMetHisLeuIleProThrMetThrLysLysMetLysGluAlaLeuLeuSerIleGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699198"
    }
  ],
  "type": "nucleotide"
}