Canonical Allele Identifier: PA645481744
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 290225
ClinVar RCV Id: RCV000372718 RCV000537433 RCV000780270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg375Cys
CA8815176
NM_000152.5:c.1123C>T