HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000382184.1:p.[Phe131_Asp133del;Arg135_Arg139delinsMetThr;Arg142_Lys144delinsLeu;Phe146_Thr151delinsValGlu;Phe153_Thr161delinsGluGluGlyLysAlaSerLeu] |
CA512318681
ENST00000399240.5:c.393del
|