ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.29982433A>T
CA823770331
POLR1HASP
n.361-5038T>A
dbSNP
6
g.29982433A>G
CA15439941
POLR1HASP
n.361-5038T>C
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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