HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514757.1:p.[Met249_Leu250delinsAsnAla;Asp253_Glu273delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArgGlyAsnLeuArg;Val275_Gly278delinsSerArgLysTrp] |
CA2580082318
ENST00000700021.1:c.745dup
|