HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_003995.2:p.[Ser17_Val27delinsHisGlnHisTrpLysAspLeuAlaHisArgPro;Phe29_Ile30delinsHis;Arg32_Ala40delinsSerHisTyrAspProArgCysGlyCys;Glu42_Trp44delinsGlyGlyVal;Asp46Arg] |
CA658823500
NM_004004.6:c.49_50del
|