HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000021.1:p.[Leu188Pro;Gly190_Thr191delinsArgAsp;Pro192dup;Tyr194_Asp196delinsHisGlyProAla;Gln198_Ile202delinsHisArgHisProVal;Tyr204_Ser205del;Ser207_Ala213delinsLeuProGluGlyProGluArg;Pro215_Thr217delinsSerArgAsp] |
CA2664005825
NM_000030.3:c.562dup
|