Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 SLC22A5 O76082 p.Tyr211Cys rs121908888 Systemic primary carnitine deficiency (CDSP) [MIM:212140]
Detail
0.13 (T)
1 (D)
N