HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.6:p.[Pro475_Ser487delinsAlaAlaHisAlaThrCysAlaGluProCysAspProGlu;Phe489_Ser498delinsLeuHisGlyHisHisGlySerAlaAlaGlu;His500_Ala501delinsProArgPro;Tyr503Gln] |
CA2695217573
NM_000545.8:c.1421dup
|