HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514752.1:p.[Cys413Ser;Leu414dup;Asp416_Leu419delinsArgSerPheTyrGlnTrp;Ser421_Ala423delinsIleLeuLys;Phe425_Tyr428delinsIlePheProTrp;Pro430del;Asp432_Asp434del;Val436Gln;Thr438_Gly442delinsAlaLeuGlnAspLeuVal] |
CA2580067754
ENST00000700004.1:c.1238del
|