Canonical Allele Identifier: PA2825065470
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1500692
ClinVar RCV Id: RCV002015848

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val350Ala
CA401364734
NM_000152.5:c.1049T>C