Canonical Allele Identifier: PA2825463655
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1720069
ClinVar RCV Id: RCV002304196

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Leu18Phe
CA401360057
NM_001079804.3:c.52C>T