ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.18581942G>A
CA412351052
CDKL5
c.455G>A (p.Cys152Tyr)
c.323G>A (p.Cys108Tyr)
n.707G>A
ClinVar
dbSNP
X
g.18581942G>T
CA121515
CDKL5
c.455G>T (p.Cys152Phe)
c.323G>T (p.Cys108Phe)
n.707G>T
ClinVar
dbSNP
Number of alleles fetched
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