Canonical Allele Identifier: PA112893
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 289361
ClinVar RCV Id: RCV000375289 RCV001248974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg594Pro
CA8815476
NM_000152.5:c.1781G>C