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Mutations on the Protein: Q99707 From Positions: 1139 To 1202

3
1
1
1




dbSNP Polymorphism: rs61736326
p.ARG1164HIS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_004331
p.PRO1173LEU
N/A
N/A
Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)


OMIM Disease: 156570.0001
p.PRO1173LEU
N/A
N/A
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE






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