Canonical Allele Identifier: PA2825442486
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1769211
ClinVar RCV Id: RCV002380649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.His432Gln
CA401365376
NM_001079804.3:c.1296C>A
CA401365377
NM_001079804.3:c.1296C>G