Canonical Allele Identifier: PA645481800
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 285157
ClinVar RCV Id: RCV000278497 RCV000664619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly483Arg
CA8815349
NM_000152.5:c.1447G>A
CA401366800
NM_000152.5:c.1447G>C