Allele Registry

Canonical Allele Identifier: PA094393

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004532

RCV000781409

ClinVar Variation:

4296

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Gly85Glu	CA253063 NM_000157.4:c.254G>A