HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005160.2:p.[Ala45del;Pro47_Cys49delinsGlnGlyArg;Leu52_Gly53delinsProArg;Ser55_Cys57delinsAlaProProThr;Leu59_Gly60delinsHisLeu;Leu62_Gln66delinsProTyrAlaThrThrSer;Ala68Arg;Tyr70_Val73delinsThrArgGlnCys] |
CA2574913680
NM_005169.4:c.132_133dup
|