Canonical Allele Identifier: PA645481493
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 391853
ClinVar RCV Id: RCV000427881 RCV001851081
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser20Cys
CA16607527
NM_000152.5:c.59C>G