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          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009717",
      "geneNCBI_id": 5828,
      "geneSymbol": "PEX2",
      "hgvs": [
        "NM_001172087.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165558.2:p.Arg125Ter",
        "hgvsWellDefined": "NP_001165558.2:p.Arg125_Leu305delinsAsnHisHisLeuAlaSerPheGlyLysValLysGlnCysValAsnPheValIleGlyLeuLeuLysLeuGlyGlyLeuIleAsnPheLeuIlePheLeuGlnArgGlyLysPheAlaThrLeuThrGluArgLeuLeuGlyIleHisSerValPheCysLysProGlnAsnIleCysGluValGlyPheGluTyrMetAsnArgGluLeuLeuTrpHisGlyPheAlaGluPheLeuIlePheLeuLeuProLeuIleAsnValGlnLysLeuLysAlaLysLeuSerSerTrpCysIleProLeuThrGlyAlaProAsnSerAspAsnThrLeuAlaThrSerGlyLysGluCysAlaLeuCysGlyGluTrpProThrMetProHisThrIleGlyCysGluHisIlePheCysTyrPheCysAlaLysSerSerPheLeuPheAspValTyrPheThrCysProLysCysGlyThrGluValHisSerLeuGlnProLeuLysSerGlyIleGluMetSerGluValAsnAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713411"
    }
  ],
  "type": "nucleotide"
}