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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.177331G>C
CA125853
HBA1
c.349G>C (p.Glu117Gln)
c.253G>C (p.Glu85Gln)
n.485G>C
ClinVar
dbSNP
16
g.177331G>A
CA125847
HBA1
c.349G>A (p.Glu117Lys)
c.253G>A (p.Glu85Lys)
n.485G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Showing alleles 1 - 2 from query results
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