Allele Registry

Canonical Allele Identifier: PA2826088583

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004537

RCV000498055

RCV001004127

RCV001248860

RCV001705580

RCV002476925

ClinVar Variation:

4298

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Phe168Tyr	CA253065 NM_001171811.2:c.503T>A