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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5225653G>T
CA124965
HBB
c.389C>A (p.Ala130Asp)
c.*205C>A (n.*205C>A)
ClinVar
dbSNP
11
g.5225653G>A
CA124993
HBB
c.389C>T (p.Ala130Val)
c.*205C>T (n.*205C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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