Canonical Allele Identifier: PA2825462507
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2138957

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser688Arg
CA8815603
NM_001079803.3:c.2064C>A
CA8815604
NM_001079803.3:c.2064C>G
CA401370403
NM_001079803.3:c.2062A>C