ABO > ABO*A2.13
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Phenotypes
A
B
A,B
A1
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.467C>T p.Pro156Leu Exon 7 chr9:136,131,651 chr9:133,256,235
 
c.742C>T p.Arg248Cys Exon 7 chr9:136,131,376 chr9:133,255,960
 
Sequence
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