HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514757.1:p.[Phe243_Leu250delinsProGlnThrGluGlnAspAlaLys;Lys252_Ser272delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArgGlyAsnLeuArg] |
CA000573
ENST00000700021.1:c.727_728del
|