Canonical Allele Identifier: PA645481847
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 290266
ClinVar RCV Id: RCV000277163 RCV000554270
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg608Gln
CA8815489
NM_000152.5:c.1823G>A