Canonical Allele Identifier: PA2825066211
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2138957
ClinVar RCV Id: RCV003066472 RCV004070173
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser688Arg
CA8815603
NM_000152.5:c.2064C>A
CA8815604
NM_000152.5:c.2064C>G
CA401370403
NM_000152.5:c.2062A>C