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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5233991C>T
CA472885870
HBD
c.315G>A (p.Arg105=)
c.92+351G>A (n.92+351G>A)
dbSNP
gnomAD v4
11
g.5233991C>A
CA124705
HBD
c.315G>T (p.Arg105Ser)
c.92+351G>T (n.92+351G>T)
ClinVar
dbSNP
Number of alleles fetched
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