Canonical Allele Identifier: PA658826277
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 552162
ClinVar RCV Id: RCV000667381

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Tyr685_Pro690del
CA658824787
NM_000152.5:c.2053_2070del