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Mutations on the Protein: P23415 From Positions: 274 To 297

6
3
0
3


Swiss-Prot Disease: VAR_010113
p.ARG280HIS
N/A
N/A
Hyperekplexia 1 (HKPX1)


Swiss-Prot Disease: VAR_000297
p.GLN294HIS
N/A
N/A
Hyperekplexia 1 (HKPX1)


Swiss-Prot Disease: VAR_010112
p.PRO278THR
N/A
N/A
Hyperekplexia 1 (HKPX1)


OMIM Disease: 138491.0006
p.LYS276GLU
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0014
p.SER296TER
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0004
p.TYR279CYS
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT






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