Canonical Allele Identifier: PA2825065777
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1396389
ClinVar RCV Id: RCV001891635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr485Ile
CA401366828
NM_000152.5:c.1454C>T