HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001012745.1:p.[Val47_Cys48del;Leu50_Gly54delinsProAlaAlaProArg;Thr56_Phe66delinsProAspGlyGlyGluHisGluHisHisArgLeu;Ser69_Phe70delinsAla;Tyr72_Gly75delinsLeuGlnValLeu;Arg77_Phe78insAlaArg] |
CA2692655372
NM_001012727.2:c.138_139del
|