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Mutations on the Protein: Q04671 From Positions: 712 To 754

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5
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Swiss-Prot Disease: VAR_006143
p.ALA724PRO
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_020636
p.ARG720CYS
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Polymorphism: VAR_006142
p.ILE722THR
N/A
N/A
N/A


Swiss-Prot Disease: VAR_006145
p.PRO743LEU
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_006144
p.SER736LEU
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


OMIM Disease: 611409.0005
p.PRO743LEU
N/A
N/A
ALBINISM, OCULOCUTANEOUS, TYPE II






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