Canonical Allele Identifier: PA915954917
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4298
ClinVar RCV Id: RCV000004537 RCV000498055 RCV001004127 RCV001705580 RCV001248860 RCV002476925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Phe255Tyr
CA253065
NM_001005742.2:c.764T>A