Scianna > SC*02
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Phenotypes
Sc1
Sc2
Sc3
Rd
STAR
SCER
SCAN
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.169G>A p.Gly57Arg Exon 4 chr1:43,296,522 chr1:42,830,851
 
 
 
 
 
 
 
 
Sequence
None
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