HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001745.2:p.[Val101_Ala115delinsArgAlaAlaTyrAlaLeuAlaLeuGlnGlnAspProAlaHisArg;Lys117_Val130delinsGlnGlyGlyGlyProArgGlyCysSerArgTrpHisSerGly] |
CA645607434
NM_001754.5:c.300dup
|