Canonical Allele Identifier: PA112912
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 370130
ClinVar RCV Id: RCV000408964 RCV000521900
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg600His
CA8815482
NM_000152.5:c.1799G>A