HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001093588.1:p.[Ala312del;Thr314_Ser319delinsLeuProSerProAspPro;Pro321_His322delinsGlyAla;Leu323_Pro324insCys;Ser326_Val337delinsProAlaProLeuLeuLeuPheLeuHisAspGlnCys;Arg338dup;Thr340_Pro341delinsAlaArgAspThr] |
CA2160433860
NM_001100118.2:c.924_933dup
|