HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004838.1:p.[Pro45delinsHisLeu;Thr47_Gly50delinsGlnTrpGluGlu;Arg52_Met54delinsGluTrp;Met56_Glu60delinsCysGlySerGly;Arg62Gly;Val65Gly;Pro68_Ser69delinsHisLeuLeu;His71Ile;His73_Pro74delinsIleLeu] |
CA2677994927
NM_004847.3:c.134del
|