Canonical Allele Identifier: PA645481953
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 281241
ClinVar RCV Id: RCV000286379 RCV000550880
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly759Arg
CA8815674
NM_000152.5:c.2275G>A
CA401324840
NM_000152.5:c.2275G>C