HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Glu113_Asp118del;Lys120_Ser123delinsValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Asp129delinsHisLeu;Asp131_Cys134delinsAlaValArg;Asp136_Ser142del] |
CA9204948
NM_000527.5:c.337dup
|