ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.18579958T>G
CA412350393
CDKL5
c.393T>G (p.Ile131Met)
c.261T>G (p.Ile87Met)
n.645T>G
ClinVar
dbSNP
X
g.18579958T=
CA2417966757
CDKL5
c.393T= (p.Ile131=)
c.261T= (p.Ile87=)
n.645T=
dbSNP
Number of alleles fetched
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