ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.44892887C>A
CA406296036
TOMM40
c.393C>A (p.Phe131Leu)
dbSNP
19
g.44892887C>T
CA9505634
TOMM40
c.393C>T (p.Phe131=)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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