ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.94614466G>C
CA390853128
SERPINA3
c.25G>C (p.Ala9Pro)
c.988G>C
n.57+2019G>C
dbSNP
14
g.94614466G>A
CA127759
SERPINA3
c.25G>A (p.Ala9Thr)
c.988G>A
n.57+2019G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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