Canonical Allele Identifier: PA658801235
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 499380
ClinVar RCV Id: RCV000594745 RCV000631066
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr182Arg
CA8814893
NM_000152.5:c.545C>G