Canonical Allele Identifier: PA2825461099
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 579993
ClinVar RCV Id: RCV000703411 RCV003144561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.His372Tyr
CA401364982
NM_001079803.3:c.1114C>T