I > GCNT2*02N.01
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Phenotypes
I
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.816G>C Exon 1 chr6:10,587,038 chr6:10,586,805
 
c.1006G>A p.Gly336Arg Exon 2 chr6:10,621,664 chr6:10,621,431
 
 
 
 
 
 
 
 
Sequence
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