Canonical Allele Identifier: PA2825065359
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1373977
ClinVar RCV Id: RCV001877587
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.His295Tyr
CA401363899
NM_000152.5:c.883C>T