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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 HSPB1 P04792 p.Pro182Leu rs28937569 Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]
3n3e
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )