Canonical Allele Identifier: PA658674483
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 449823
ClinVar RCV Id: RCV000522173 RCV001034275
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg891Cys
CA8815832
NM_000152.5:c.2671C>T