ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.94314305A>G
CA390852180
SERPINA6
c.344T>C (p.Leu115Pro)
dbSNP
gnomAD v3
gnomAD v4
14
g.94314305A>T
CA127007
SERPINA6
c.344T>A (p.Leu115His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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