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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.176796C>T
CA276416531
HBA1
c.80C>T (p.Ala27Val)
c.-2+34C>T (n.-2+34C>T)
n.99C>T
n.49C>T
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.176796C>A
CA125883
HBA1
c.80C>A (p.Ala27Glu)
c.-2+34C>A (n.-2+34C>A)
n.99C>A
n.49C>A
ClinVar
dbSNP
Number of alleles fetched
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