HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000739.1:p.[Pro289del;Ser291His;Asp293_Cys317delinsProArgArgAlaAlaArgArgGlnValProHisValHisHisGlyAlaCysHisLeuLeuHisArgHisGlnArg;Val318_Leu319insArg] |
CA2648170611
NM_000748.3:c.864_865insA
|