HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514465.1:p.[Glu527Cys;Val529_Arg530delinsAsnPheLeuIleMetHisMet;Asn531_Tyr532insProSerHis;Val533_Thr535delinsProAsnTyrIle;Phe536_Ter537insGlySerIlePheAsnArgLeuValTyrIleTyr] |
CA2580076326
ENST00000699596.1:c.1579_1595del
|