Allele Registry

Canonical Allele Identifier: PA645388331

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000225396

ClinVar Variation:

236400

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Leu393Val	CA10581618 NM_001005741.2:c.1177C>G