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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.176946C>T
CA276416673
HBA1
c.113C>T (p.Pro38Leu)
c.17C>T (p.Pro6Leu)
n.249C>T
n.82C>T
dbSNP
gnomAD v3
gnomAD v4
16
g.176946C>G
CA125686
HBA1
c.113C>G (p.Pro38Arg)
c.17C>G (p.Pro6Arg)
n.249C>G
n.82C>G
ClinVar
dbSNP
Number of alleles fetched
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