HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000103.2:p.[Ser552_Leu553delinsHisCys;Gly555_Glu559delinsAlaTrpTrpLys;Glu561_Ile580delinsLeuArgSerLeuAsnLeuCysLeuLeuThrArgThrPheArgLeuSerGlnAlaSerArg;Phe581_Arg582insSer] |
CA2675943652
NM_000112.4:c.1654del
|