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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PHKB Q93100 p.Gln657Ter rs34667348 GLYCOGEN STORAGE DISEASE IXb [MIM:172490#0002]
Detail
(-)
(-)
N
2 PHKB Q93100 p.Gln657Lys rs34667348 variant of unknown significance
Detail
0.60 (T)
0.999 (D)
N