ABO > ABO*O.01.83
Allele Information
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Phenotypes
A
B
A,B
A1
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
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c.106G>T | p.Val36Phe | Exon 3 | chr9:136,136,774 | chr9:133,261,358 |
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c.188G>A | p.Arg63His | Exon 4 | chr9:136,135,240 | chr9:133,259,824 |
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c.261delG | p.Thr88Profs*31 | Exon 6 | chr9:136,132,909 | chr9:133,257,493 |
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c.297A>G | Exon 6 | chr9:136,132,873 | chr9:133,257,457 |
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Sequence
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Publication
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