ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.51995107A>C
CA605055875
ACVR1B
c.*997A>C (n.*997A>C)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.51995107A>G
CA13667489
ACVR1B
c.*997A>G (n.*997A>G)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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