Canonical Allele Identifier: PA645481941
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 265160
ClinVar Variation Id: 1972115
ClinVar RCV Id: RCV002745939

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Trp746Cys
CA8815665
NM_000152.5:c.2238G>C
CA401324771
NM_000152.5:c.2238G>T