HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000434092.1:p.Phe76_Ter77insTyrTyrProValProLeuIleArgArgAlaTrpGluLeuGlyLeuMetAsnThrHisIleProGluAsnCysGlyGlyLeuGlyLeuGlyThrPheAspAlaCysLeuIleSerGluGluLeuAlaTyrGlyCysThrGlyValGlnThrAlaIleGluGlyAsnSerLeuGlyGlnMetProIleIleIleAlaGlyAsnAspGlnGlnLysLysLysTyrLeuGlyArgMetThrGluGluProLeuMetCysAlaTyrCysValThrGluProGlyAlaGlySerAspValAlaGlyIleLysThrLysAlaGluLysLysGlyAspGluTyrIleIleAsnGlyGlnLysMetTrpIleThrAsnGlyGlyLysAlaAsnTrpTyrPheLeuLeuAlaArgSerAspProAspProLysAlaProAlaAsnLysAlaPheThrGlyPheIleValGluAlaAspThrProGlyIleGlnIleGlyArgLysGluLeuAsnMetGlyGlnArgCysSerAspThrArgGlyIleValPheGluAspValLysValProLysGluAsnValLeuIleGlyAspGlyAlaGlyPheLysValAlaMetGlyAlaPheAspLysThrArgProValValAlaAlaGlyAlaValGlyLeuAlaGlnArgAlaLeuAspGluAlaThrLysTyrAlaLeuGluArgLysThrPheGlyLysLeuLeuValGluHisGlnAlaIleSerPheMetLeuAlaGluMetAlaMetLysValGluLeuAlaArgMetSerTyrGlnArgAlaAlaTrpGluValAspSerGlyArgArgAsnThrTyrTyrAlaSerIleAlaLysAlaPheAlaGlyAspIleAlaAsnGlnLeuAlaThrAspAlaValGlnIleLeuGlyGlyAsnGlyPheAsnThrGluTyrProValGluLysLeuMetArgAspAlaLysIleTyrGlnValArgLeuLysMetIlePheLeuValCysLysGluArgGluTyrSer |
CA340809704
ENST00000526129.5:c.231G>C
CA340809705
ENST00000526129.5:c.231G>T
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