Canonical Allele Identifier: PA2825065556
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1993557
ClinVar RCV Id: RCV002814630

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val388del
CA8815185
NM_000152.5:c.1163_1165del