Canonical Allele Identifier: PA2825461715
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 379593
ClinVar RCV Id: RCV000443985 RCV000666526
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Pro493Leu
CA16608675
NM_001079803.3:c.1478C>T