Vel > VEL*-01
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Phenotypes
Vel
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.64_80delAGCCTAGGGGCTGTGTC p.Ser22Glnfs Exon 3 chr1:3,692,001 chr1:3,775,437
 
 
 
 
 
 
 
 
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