Canonical Allele Identifier: PA113499
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 279811
ClinVar RCV Id: RCV000288533 RCV000381512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu552Pro
CA8815429
NM_000152.5:c.1655T>C