HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001317682.1:p.[Val288del;Ser290_Gln293delinsProLeuIle;Gln295_Asp303delinsArgGlyArgPheValLeuProGlnIle;Cys305_Glu309del;Leu311_Glu312delinsSer;Ser314_Val317delinsThr] |
CA2535996777
NM_001330753.2:c.862del
|