HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001341833.1:p.[Ile2489Lys;Glu2491Met;Glu2493del;Ser2495Leu;Thr2497_Thr2516delinsGlnIleValLeuLeuArgProPheProGlnValLeuGlnMetValLeuAsnGlnArg;Ile2518_Tyr2519del] |
CA1139659003
NM_001354904.2:c.7466_7469del
|