Canonical Allele Identifier: PA2825463787
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1947628
ClinVar RCV Id: RCV002685537

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.His56Asn
CA294886642
NM_001079804.3:c.166C>A