Canonical Allele Identifier: PA2825462797
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 526533
ClinVar RCV Id: RCV000631078

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Leu744Phe
CA401324759
NM_001079803.3:c.2230C>T