ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.18575423T>A
CA170469
CDKL5
c.215T>A (p.Ile72Asn)
c.83T>A (p.Ile28Asn)
n.467T>A
ClinVar
dbSNP
X
g.18575423T>C
CA121523
CDKL5
c.215T>C (p.Ile72Thr)
c.83T>C (p.Ile28Thr)
n.467T>C
ClinVar
dbSNP
Number of alleles fetched
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