Canonical Allele Identifier: PA2825442226
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2698939
ClinVar RCV Id: RCV003502928
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Arg375Ser
CA401365001
NM_001079804.3:c.1123C>A