HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000420201.2:p.[His1818Arg;Ser1819_His1820insGlnProGlnValGlnSer;Tyr1821delinsArgThrProArgMetSerLeuGlnSerGlyLeuSerArgProTrpGluLeuLeuSerLeuPhe] |
CA2580093786
ENST00000473961.6:c.5453_*2del
|