EKLF > KLF1*BGM34
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Phenotypes
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.519_525dupCGGCGCC p.Gly176Argfs*179 Exon 2 chr19:12,996,525 chr19:12,885,711
 
 
 
 
 
 
 
 
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