Canonical Allele Identifier: PA2573176916
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1375517
ClinVar RCV Id: RCV001902461

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro829Arg
CA401325952
NM_001079804.3:c.2486C>G