Canonical Allele Identifier: PA2825462496
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 285821
ClinVar RCV Id: RCV000264524 RCV000364773 RCV002307478 RCV003391044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Pro684Leu
CA8815599
NM_001079803.3:c.2051C>T