HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001373093.1:p.[Pro506_Pro507insSer;Gln508_Gly511delinsAlaSerArgArg;Val513Glu;Lys515_Pro516del;Tyr518_Pro527delinsAsn;Ser529_Gly536del] |
CA90754700
NM_001386164.1:c.1518_1519insT
|