HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004378.1:p.[Glu167del;Asp169_Leu171delinsThrArgPro;Ser173_Leu177delinsGlyGlnArgAlaGlu;Ser179_Gln196delinsHisValHisAlaGlyGlnAspLeuValProGluProAlaLeuGlnValGlnAlaAla] |
CA2695205817
NM_004387.3:c.498dup
|