ABO > ABO*AEL.05
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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.767T>C p.Ile256Thr Exon 7 chr9:136,131,351 chr9:133,255,935
 
Sequence
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