HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000497000.1:p.[Ser50del;Ser52_His54delinsProValLeu;Ser56_Ser62delinsLeuGlnLeuTrpAspThrGlu;Glu64_Val66delinsLeuArgAsp;Thr68_Tyr72delinsValHis;Ile74_Glu79delinsGlyThrLeuPheTyrSer] |
CA920352189
ENST00000650281.1:c.147dup
|