HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001900.1:p.Leu412_Ter413insSerPheProArgArgProArgAlaSerThrGluThrGluGluSerProArgAlaGlyGlyProTrpProSerGlyProSerHisThrHisProHisThrArgProProThrValLeuGlyAlaLeuGluAlaGlyGlyProSerProThrCysCysPheValLeuTrpPheSerProProTrpValGlnLysCysCysLeuProValCysLeuSerIleCysLeuValGlyValGluLeuIleGlnSerThrAspLeuPheArgAlaLeuGluAspProThrGlnAlaTrpGlnProSerSerCysIleLeuGlyLeuProSerSerProGlySerProLeuProGlyProThrSerAlaArgTrpAlaGluProLeuProHisThrArgProSerSerArgAlaLeuProTrpLysProAlaLeuProGluGlyProSerAlaGlnLeuGlyProSerTrpAlaLeuProProTyrLeuPheSerValProGlyProLeuArgMetArgProLeuGluAla |
CA379092305
NM_001909.5:c.1238A>C
|