Canonical Allele Identifier: PA645481941
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 265160
ClinVar RCV Id: RCV000254988 RCV000283919 RCV000825562 RCV003920023 RCV004021024
ClinVar Variation Id: 1972115
ClinVar RCV Id: RCV002745939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Trp746Cys
CA8815665
NM_000152.5:c.2238G>C
CA401324771
NM_000152.5:c.2238G>T