HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001073136.1:p.[Pro232_Thr233delinsAlaHisAlaGly;Val235_Arg248delinsAspLeuValProGluProProLeuGlnAsnGluAlaProGly;Ala250_Lys253delinsGlyGlnGlyGly;Gln256_Gln260delinsAlaThrAlaAla] |
CA2739278428
NM_001079668.3:c.692dup
|