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"NP_060352.1:p.Trp73_His311delinsPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysLeuIleGluArgSerProArgThrLeuProArgSerIleThrTyrValSerIleIleIlePheIleMetGlyAlaSerIleHisLeuValGlyAspSerValAsnHisArgLeuLeuPheSerGlyTyrGlnHisHisLeuSerValArgGluAsnProIleIleLysAsnLeuLysProGluThrLeuIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669413", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000249806.11:c.218G>A" }, "RefSeq": { "hgvs": "NM_017882.3:c.218G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000249806.5:p.Trp73Ter" }, "RefSeq": { "hgvs": "NP_060352.1:p.Trp73Ter" } } } } ], "type": "nucleotide" }