HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000515481.1:p.Leu48_Ter49insCysGlyThrThrValArgAspTyrThrGlnMetAsnGluLeuGlnArgArgLeuGlyProArgGlyLeuGluAsnAlaLysAsnGluGluIleLeuAsnSerLeuLysTyrValArgProGlyGlyGlyPheGluProAsnPheMetLeuPheGluLysCysGluValAsnGlyAlaGlyAlaHisProLeuPheAlaPheLeuArgGluAlaLeuProAlaProSerAspAspAlaThrAlaLeuMetThrAspProLysLeuIleThrTrpSerProValCysArgAsnAspValAlaTrpAsnPheGluLysPheLeuValGlyProAspGlyValProLeuArgArgTyrSerArgArgPheGlnThrIleAspIleGluProAspIleGluAlaLeuLeuSerGlnGlyProSerCysAla |
CA352783341
ENST00000703796.1:c.147A>T
CA352783343
ENST00000703796.1:c.147A>C
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