HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514757.1:p.[Phe243_Leu250delinsProGlnThrGluGlnAspAla;Asp253_Ser272delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArgGlyAsnLeu] |
CA000571
ENST00000700021.1:c.726_727del
|