HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000153.1:p.[Arg345_Leu355delinsGlnAlaAspLeuGlnHisProGluHisAla;Leu357_Ser360delinsAlaAla;Thr362Leu;Cys364_Arg368delinsHisArgLeuArgHis;Cys371delinsProArgLeuArg;Ser373Arg;Ser375del] |
CA2578877935
NM_000162.5:c.1034_1035del
|