Canonical Allele Identifier: PA2825065303
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2078644
ClinVar RCV Id: RCV002993879
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser272Arg
CA401363547
NM_000152.5:c.814A>C
CA401363556
NM_000152.5:c.816C>A
CA401363558
NM_000152.5:c.816C>G