Canonical Allele Identifier: PA2825065778
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1342180
ClinVar RCV Id: RCV001838849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr485Pro
CA401366821
NM_000152.5:c.1453A>C