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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5226770C>A
CA217114516
HBB
c.122G>T (p.Arg41Met)
n.54G>T
n.173G>T
c.106G>T (p.Gly36Cys)
dbSNP
11
g.5226770C>T
CA124728
HBB
c.122G>A (p.Arg41Lys)
n.54G>A
n.173G>A
c.106G>A (p.Gly36Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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