Allele Registry

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Canonical Allele Identifier: PA2825459778

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2139403

ClinVar RCV Id: RCV003070816

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Ser88Arg	CA401360559 NM_001079803.3:c.262A>C CA401360565 NM_001079803.3:c.264C>A CA401360566 NM_001079803.3:c.264C>G