Canonical Allele Identifier: PA2825066451
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1375517
ClinVar RCV Id: RCV001902461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro829Arg
CA401325952
NM_000152.5:c.2486C>G