Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 ACTA1 P68133 p.Asp294Val rs121909529 Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
Detail
(-)
0.931 (D)
N