EKLF > KLF1*BGM16
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Phenotypes
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.304T>C p.Ser102Pro Exon 2 chr19:12,996,740 chr19:12,885,926
 
 
 
 
 
 
 
 
c.1002+2del Intron 3 chr19:12,995,784 chr19:12,884,970
 
Sequence
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