Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 EPM2A O95278 p.Trp32Gly rs104893955 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.34 (T)
1 (D)
N