Allele Registry

Canonical Allele Identifier: PA253095

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004563

ClinVar Variation:

4319

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Cys381Gly	CA253094 NM_001005741.2:c.1141T>G