Canonical Allele Identifier: PA915964680
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 597445
ClinVar RCV Id: RCV000733568
ClinVar Variation Id: 1524346
ClinVar RCV Id: RCV002049131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Asn524Lys
CA401367224
NM_001079804.3:c.1572C>A
CA401367225
NM_001079804.3:c.1572C>G