Canonical Allele Identifier: PA2825066540
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2134932
ClinVar RCV Id: RCV003066037
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu899Arg
CA401326860
NM_000152.5:c.2696T>G