Canonical Allele Identifier: PA658801313
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 526533
ClinVar RCV Id: RCV000631078

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu744Phe
CA401324759
NM_000152.5:c.2230C>T