Canonical Allele Identifier: PA645481903
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 285821
ClinVar RCV Id: RCV000264524 RCV000364773 RCV002307478 RCV003391044
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro684Leu
CA8815599
NM_000152.5:c.2051C>T