HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000734.2:p.[Cys252del;Leu254_Phe257delinsProAlaHisLeu;Thr259_Tyr264delinsProHisCysAlaArgLeu;Ser267_Thr274delinsAlaLeuArg;Cys276_Val279delinsArg] |
CA619417543
NM_000743.5:c.749dup
|