HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000324180.4:p.Asp142_Ter143insArgGlyLeuTrpProGluLeuProGlyProArgValAlaAlaProLeuProGlyPheIleProTrpCysHisGlnProSerCysGlyProLeuSerAsnValLeuGlyLysGluIleAsnIlePheLysLeuAspValSerThrValLeuLeuPheCysLeuGluSerGlyThrArgGlyAlaSerAlaCysAlaAlaGlyAlaAlaGlyAsnSerGlyCysPheSerLeuSerLeuSerPheLeuGlyAlaHisPheCysCysPheAspSerArgAlaTyrGlnValArgSerGluGlyGlyArgArgGlnCysProPheCys |
CA401215157
ENST00000350051.8:c.427T>C
CA401215177
ENST00000350051.8:c.427T>A
|