HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001341732.1:p.[Arg23_Leu33delinsGlnAlaAspLeuGlnHisProGluHisAla;Leu35_Ser38delinsAlaAla;Thr40Leu;Cys42_Arg46delinsHisArgLeuArgHis;Cys49delinsProArgLeuArg;Ser51Arg;Ser53del] |
CA2578877935
NM_001354803.2:c.68_69del
|