Canonical Allele Identifier: PA2825462651
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 281232
ClinVar RCV Id: RCV000265982 RCV000382817 RCV000675239 RCV000852733 RCV002429212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Val718Ile
CA8815626
NM_001079803.3:c.2152G>A