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"NP_004983.1:p.Lys22_Ser486delinsAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.64A>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.64A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Lys22Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Lys22Ter" } } } } ], "type": "nucleotide" }