Canonical Allele Identifier: PA645481958
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 281240
ClinVar RCV Id: RCV000331593 RCV000529044 RCV002450800
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu775Met
CA8815687
NM_000152.5:c.2323C>A