Canonical Allele Identifier: PA2825463248
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 500504
ClinVar RCV Id: RCV000596654 RCV001854060
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Leu847Arg
CA401326121
NM_001079803.3:c.2540T>G