Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 CASR P41180 p.Arg227Leu rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
Detail
0.31 (T)
0.673 (D)
N
2 CASR P41180 p.Arg227Gln rs28936684 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.57 (T)
0.886 (D)
N