Canonical Allele Identifier: PA2825461154
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 948944
ClinVar RCV Id: RCV001220302 RCV003145408
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser379Phe
CA294892234
NM_001079803.3:c.1136C>T