Canonical Allele Identifier: PA2825463310
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1306657
ClinVar RCV Id: RCV001770837

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Val867Leu
CA401326325
NM_001079803.3:c.2599G>C
CA401326327
NM_001079803.3:c.2599G>T