HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001104262.1:p.[Arg174Glu;Ser176Ala;Ser178_Lys187delinsProGlyGluSerArgAsnHisLeuArgSer;Lys189_Ser190delinsAsnLeu;Ala193_Arg200delinsLeuGlnGluLeuAlaGluAla;Arg202Asp] |
CA270442
NM_001110792.2:c.516del
|