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"NP_995322.1:p.Trp197_Gly500delinsTyrGluGlyAlaLeuLeuLeuLeuIleTyrGlyLeuTyrValLeuValLeuCysPheAspIleLysIleAsnGlnTyrIleIleLysLysCysSerProCysCysAlaCysLeuAlaLysAlaMetGluArgSerGluGlnGlnProLeuMetGlyTrpGluAspGluGlyGlnProPheIleArgArgGlnSerArgThrAspSerGlyIlePheTyrGluAspSerGlyTyrSerGlnLeuSerIleSerLeuHisGlyLeuSerGlnValSerGluAspProProSerValPheAsnMetProGluAlaAspLeuLysArgIlePheTrpValLeuSerLeuProIleIleThrLeuLeuPheLeuThrThrProAspCysArgLysLysPheTrpLysAsnTyrPheValIleThrPhePheMetSerAlaIleTrpIleSerAlaPheThrTyrIleLeuValTrpMetValThrIleThrGlyGluThrLeuGluIleProAspThrValMetGlyLeuThrLeuLeuAlaAlaGlyThrSerIleProAspThrIleAlaSerValLeuValAlaArgLysGlyLysGlyAspMetAlaMetSerAsnIleValGlySerAsnValPheAspMetLeuCysLeuGlyIleProTrpPheIleLysThrAlaPheIleAsnGlySerAlaProAlaGluValAsnSerArgGlyLeuThrTyrIleThrIleSerLeuAsnIleSerIleIlePheLeuPheLeuAlaValHisPheAsnGlyTrpLysLeuAspArgLysLeuGlyIleValCysLeuLeuSerTyrLeuGlyLeuAlaThrLeuSerValLeuTyrGluLeuGlyIleIleGlyAsnAsnLysIleArgGlyCysGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701665", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341459.8:c.591G>A" }, "RefSeq": { "hgvs": "NM_205850.3:c.591G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341550.3:p.Trp197Ter" }, "RefSeq": { "hgvs": "NP_995322.1:p.Trp197Ter" } } } } ], "type": "nucleotide" }