HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514757.1:p.[Phe242_Leu250delinsValLeuProGlnThrGluGlnAspAla;Asp253_Thr271delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArgGlyAsn] |
CA470669967
ENST00000700021.1:c.723dup
|