ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.106444495C>G
CA386391207
POLR3B
c.1988C>G (p.Thr663Ser)
c.1814C>G (p.Thr605Ser)
dbSNP
gnomAD v4
12
g.106444495C>T
CA351312
POLR3B
c.1988C>T (p.Thr663Ile)
c.1814C>T (p.Thr605Ile)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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