Allele Registry

Canonical Allele Identifier: PA094387

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004552

RCV001171764

ClinVar Variation:

4310

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Gly517Ser	CA253081 NM_000157.4:c.1549G>A