Canonical Allele Identifier: PA145793
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 92488
ClinVar RCV Id: RCV000078185 RCV000169616 RCV000675218 RCV002362723
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg223His
CA145791
NM_000152.5:c.668G>A