Canonical Allele Identifier: PA915964661
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189007
ClinVar Variation Id: 2441622

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Trp481Arg
CA274247
NM_001079804.3:c.1441T>C
CA401366772
NM_001079804.3:c.1441T>A