Canonical Allele Identifier: PA915964404
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 325781
ClinVar RCV Id: RCV000372885 RCV000497864 RCV002265733
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser251Leu
CA8815007
NM_001079804.3:c.752C>T