Canonical Allele Identifier: PA2825464073
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2441626
ClinVar RCV Id: RCV003144101

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Glu174Asp
CA8814886
NM_001079804.3:c.522G>T
CA401361777
NM_001079804.3:c.522G>C