ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.155459499G>A
CA169338400
EN2
c.685+437G>A (n.685+437G>A)
dbSNP
7
g.155459499G>T
CA12623071
EN2
c.685+437G>T (n.685+437G>T)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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