Canonical Allele Identifier: PA2825463089
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 252467
ClinVar RCV Id: RCV000238987 RCV000542072 RCV000725668 RCV004020975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Thr806Met
CA8815734
NM_001079803.3:c.2417C>T