Canonical Allele Identifier: PA2825066343
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2139777
ClinVar RCV Id: RCV003052773

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu756Phe
CA401324824
NM_000152.5:c.2266C>T