HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001116079.1:p.[Arg130_Asn132del;Arg135_Arg139delinsMetThr;Arg142_Lys144delinsLeu;Phe146_Thr151delinsValGlu;Phe153_Val159delinsGluGluGlyLysAlaSerLeu] |
CA512318692
NM_001122607.2:c.388del
|