Canonical Allele Identifier: PA658801265
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 526518
ClinVar RCV Id: RCV000631056

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Met440del
CA658795250
NM_000152.5:c.1320_1322del