Canonical Allele Identifier: PA2825462671
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 194458
ClinVar RCV Id: RCV000540247 RCV000657136
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ala719Glu
CA240427
NM_001079803.3:c.2156C>A