Canonical Allele Identifier: PA2825065536
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2765142
ClinVar RCV Id: RCV003503349
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Tyr378Asn
CA401365019
NM_000152.5:c.1132T>A