Canonical Allele Identifier: PA658678813
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 450358
ClinVar RCV Id: RCV000734310 RCV000804034
ClinVar Variation Id: 664232
ClinVar RCV Id: RCV000822287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val544Met
CA8815395
NM_000152.5:c.1630G>A
CA915952253
NM_000152.5:c.1629_1630delinsTA