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Mutations on the Protein: P40337 From Positions: 117 To 128

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7
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Swiss-Prot Disease: VAR_034993
p.ALA122ILE
N/A
N/A
Pheochromocytoma (PCC)


Swiss-Prot Disease: VAR_005730
p.ASP121GLY
N/A
N/A
Von Hippel-Lindau disease (VHLD)


Swiss-Prot Disease: VAR_034994
p.ASP126TYR
N/A
N/A
Erythrocytosis, familial, 2 (ECYT2)


Swiss-Prot Disease: VAR_005727
p.LEU118ARG
N/A
N/A
Von Hippel-Lindau disease (VHLD)


Swiss-Prot Disease: VAR_005726
p.LEU118PRO
N/A
N/A
Von Hippel-Lindau disease (VHLD)


Swiss-Prot Disease: VAR_005728
p.PHE119LEU
N/A
N/A
Von Hippel-Lindau disease (VHLD)


Swiss-Prot Disease: VAR_005729
p.PHE119SER
N/A
N/A
Von Hippel-Lindau disease (VHLD)


OMIM Disease: 608537.0022
p.ASP126TYR
N/A
N/A
ERYTHROCYTOSIS, FAMILIAL, 2






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