Canonical Allele Identifier: PA915964925
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 500504
ClinVar RCV Id: RCV000596654 RCV001854060
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Leu847Arg
CA401326121
NM_001079804.3:c.2540T>G