Canonical Allele Identifier: PA198788
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 188480
ClinVar RCV Id: RCV000493868 RCV000631097 RCV002469040
ClinVar Variation Id: 1459200
ClinVar RCV Id: RCV001958884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Asp459Asn
CA198786
NM_000152.5:c.1375G>A
CA2573154965
NM_000152.5:c.1374_1375delinsTA