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Mutations on the Protein: P11277 From Positions: 1923 To 2030

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Swiss-Prot Disease: VAR_001357
p.ALA2018GLY
N/A
N/A
Elliptocytosis 3 (EL3)


Swiss-Prot Disease: VAR_001359
p.ALA2023VAL
N/A
N/A
Elliptocytosis 3 (EL3)


Swiss-Prot Disease: VAR_001361
p.LEU2025ARG
N/A
N/A
Elliptocytosis 3 (EL3)


Swiss-Prot Disease: VAR_001358
p.SER2019PRO
N/A
N/A
Elliptocytosis 3 (EL3)


Swiss-Prot Disease: VAR_001360
p.TRP2024ARG
N/A
N/A
Elliptocytosis 3 (EL3)


OMIM Disease: 182870.0008
p.ALA2018GLY
N/A
N/A
PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 3, INCLUDED


OMIM Disease: 182870.0011
p.LEU2025ARG
N/A
N/A
ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL


OMIM Disease: 182870.0009
p.SER2019PRO
N/A
N/A
SPECTRIN PROVIDENCE






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