ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.88437389A>C
CA397125123
ZNF469
c.9919A>C (p.Thr3307Pro)
c.9835A>C (p.Thr3279Pro)
dbSNP
16
g.88437389A>G
CA151309
ZNF469
c.9919A>G (p.Thr3307Ala)
c.9835A>G (p.Thr3279Ala)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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