Canonical Allele Identifier: PA2499237175
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1051704
ClinVar RCV Id: RCV001359778

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser45Phe
CA401360317
NM_001079804.3:c.134C>T