Canonical Allele Identifier: PA2825065314
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 891171
ClinVar RCV Id: RCV001126287

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Asn280Lys
CA8815024
NM_000152.5:c.840C>G
CA401363659
NM_000152.5:c.840C>A