Canonical Allele Identifier: PA2499237191
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1023978
ClinVar RCV Id: RCV001324102 RCV003135975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val480Ile
CA8815347
NM_001079804.3:c.1438G>A