HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000441667.2:p.[Pro515_Arg521delinsValGlnThr;Leu523_Pro531del;Val533Trp;Gln535_Pro539delinsAsp;Thr541_Pro543delinsTrpArgLys] |
CA2806368039
ENST00000543915.6:c.1540_1541dup
|