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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5226743G>A
CA124995
HBB
c.149C>T (p.Ser50Phe)
n.81C>T
n.200C>T
c.133C>T (p.Pro45Ser)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
11
g.5226743G>C
CA125514
HBB
c.149C>G (p.Ser50Cys)
n.81C>G
n.200C>G
c.133C>G (p.Pro45Ala)
ClinVar
dbSNP
Number of alleles fetched
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