Canonical Allele Identifier: PA658826290
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 552527
ClinVar RCV Id: RCV000667808

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Trp772Arg
CA401324918
NM_000152.5:c.2314T>C
CA401324920
NM_000152.5:c.2314T>A