HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000518176.1:p.[Ser714_His716del;Cys719_His721delinsThrLeuPro;Pro723_Val743delinsAlaMetProGlnValTrpAsnAlaLysSerArgSerMetGluSerArgProLeuArgSerArg] |
CA2586966704
ENST00000710286.1:c.2139del
|