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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.173599A>T
CA393994690
HBA2
c.428A>T (p.Ter143Leu)
c.332A>T (p.Ter111Leu)
n.564A>T
dbSNP
16
g.173599A>C
CA125552
HBA2
c.428A>C (p.Ter143Ser)
c.332A>C (p.Ter111Ser)
n.564A>C
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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