I > GCNT2*01N.02
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Phenotypes
I
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.1154G>A p.Arg385His Exon 3 chr6:10,626,785 chr6:10,626,552
 
 
 
 
 
 
 
 
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