Database of Pathogenic Variants
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Gene Detail
Gene Symbol
AGL
Gene:178
HGNC:321
Gene Name
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Chromosome
1
Cytogenetic Band
p21.2
RefSeq Accession
NM_000028
Associated Diseases
Glycogen storage disease 3
Associated Variants
NM_000028.2:c.2813-2A>C
NM_000028.2:c.3808A>T