Allele Registry

Canonical Allele Identifier: PA253109

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004571

RCV000004572

RCV000055772

RCV000723428

RCV001004116

RCV001270486

RCV002482828

ClinVar Variation:

4327

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165283.1:p.Gly367Ser	CA253107 NM_001171812.2:c.1099G>A