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Mutations on the Protein: Q99698 From Positions: 1901 To 2091

3
1
1
1


dbSNP Polymorphism: rs6665568
p.GLN1949HIS
N/A
N/A


Swiss-Prot Disease: VAR_013557
p.VAL1999ASP
N/A
N/A
Chediak-Higashi syndrome (CHS)


OMIM Disease: 606897.0010
p.VAL1999ASP
N/A
N/A
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE






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