Canonical Allele Identifier: PA112855
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 283230
ClinVar RCV Id: RCV000306541 RCV000725236
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg375Leu
CA8815178
NM_000152.5:c.1124G>T