Diego > DI*02.12
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Phenotypes
Dia
Dib
Wra
Wrb
Wda
Rba
WARR
ELO
Wu
Bpa
Moa
Hga
Vga
Swa
BOW
NFLD
Jna
KREP
Tra
Fra
SW1
DISK
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.1966C>T p.Arg656Cys Exon 16 chr17:42,331,955 chr17:44,254,587
 
 
 
 
 
 
 
 
Sequence
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