Canonical Allele Identifier: PA2825065464
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1002609
ClinVar RCV Id: RCV001299058

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro347Ser
CA401364688
NM_000152.5:c.1039C>T