HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514757.1:p.[Val240_Leu250delinsGlyArgValLeuProGlnThrGluGlnAspAla;Asp253_Glu269delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArg] |
CA658822955
ENST00000700021.1:c.718dup
|