HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.6:p.[Gly191_Lys198delinsValMetSerTyrGlnProArgArg;Arg200_Trp206delinsGlyGlyThrValSerSer;Pro208_Glu219delinsAlaGlnHisProSerArgSerCysSerArgProMet] |
CA2695217519
NM_000545.8:c.570del
|