HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000048.1:p.[Arg1038_Asp1053delinsAsnSerPheTrpProThrLeuValLysMetAspLeuIleLeuIle;Cys1055_Cys1067delinsValArgAsnThrGlnMetPheLeuValIleIleAlaVal] |
CA2195297318
NM_000057.4:c.3113_3116del
|