ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.69035952G>C
CA193369220
FXN
c.165+5G>C (n.165+5G>C)
c.163+5G>C
dbSNP
gnomAD v4
9
g.69035952G>A
CA5072648
FXN
c.165+5G>A (n.165+5G>A)
c.163+5G>A
dbSNP
ExAC
gnomAD v2
gnomAD v4
Showing alleles 1 - 2 from query results
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