Canonical Allele Identifier: PA240429
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_000143.2:p.Ala719Glu
CA240427
NM_000152.5:c.2156C>A