Canonical Allele Identifier: PA2825065564
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2057503
ClinVar RCV Id: RCV002923394

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Met391Lys
CA401365097
NM_000152.5:c.1172T>A