Canonical Allele Identifier: PA2825461195
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1993557
ClinVar RCV Id: RCV002814630

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Val388del
CA8815185
NM_001079803.3:c.1163_1165del