Canonical Allele Identifier: PA645481810
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 379593
ClinVar RCV Id: RCV000443985 RCV000666526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro493Leu
CA16608675
NM_000152.5:c.1478C>T