Canonical Allele Identifier: PA2825065738
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 657737
ClinVar RCV Id: RCV000814412

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr469Ile
CA8815307
NM_000152.5:c.1406C>T