Canonical Allele Identifier: PA2825065789
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1482744
ClinVar RCV Id: RCV002003010 RCV003136406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro488Leu
CA401366865
NM_000152.5:c.1463C>T