Canonical Allele Identifier: PA2825065113
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1199276
ClinVar RCV Id: RCV001563757 RCV002267116
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr182Met
CA8814894
NM_000152.5:c.545C>T