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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5225679T>C
CA472638452
HBB
c.363A>G (p.Lys121=)
n.295A>G
c.*179A>G (n.*179A>G)
ClinVar
dbSNP
11
g.5225679T>G
CA125130
HBB
c.363A>C (p.Lys121Asn)
n.295A>C
c.*179A>C (n.*179A>C)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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