Canonical Allele Identifier: PA2825065880
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 643087
ClinVar RCV Id: RCV000796710

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro542Leu
CA401367352
NM_000152.5:c.1625C>T