Allele Registry

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Canonical Allele Identifier: PA092049

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189007

ClinVar RCV Id: RCV000169391 RCV002223801

ClinVar Variation Id: 2441622

ClinVar RCV Id: RCV003144097 RCV003778883

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Trp481Arg	CA274247 NM_000152.5:c.1441T>C CA401366772 NM_000152.5:c.1441T>A