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Mutations on the Protein: Q04671 From Positions: 293 To 335

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Swiss-Prot Disease: VAR_020626
p.ALA334VAL
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


dbSNP Polymorphism: rs1800401
p.ARG305TRP
N/A
N/A
N/A


OMIM Disease: 611409.0007
p.ALA334VAL
N/A
N/A
ALBINISM, OCULOCUTANEOUS, TYPE II


OMIM Disease: 611409.0011
p.ARG305TRP
N/A
N/A
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES||SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED






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