Canonical Allele Identifier: PA2825461586
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 285589
ClinVar RCV Id: RCV000386415 RCV000673833
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ile468Phe
CA10605170
NM_001079803.3:c.1402A>T