HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001341652.1:p.[Cys174_Glu186delinsAlaValValTrpPheGlnLeuArgSerThrSerArgArgArg;Glu188_Glu189delinsArgAlaGlyTrp;Met192_Glu193delinsAsn] |
CA2580068444
NM_001354723.2:c.520del
|