ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.18269920G>C
CA1348867122
TBC1D5
n.211+174687C>G
dbSNP
3
g.18269920G>A
CA11580158
TBC1D5
n.211+174687C>T
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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