HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000508.1:p.[Ala116_Thr119delinsProProSerSer;Ala121_Ala131delinsLeuArgCysThrProProTrpThr;Val133del;Thr135_Val136delinsTrpLeu;Thr138Ter] |
CA2630737884
NM_000517.6:c.344_345dup
|