Allele Registry

Canonical Allele Identifier: PA253106

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004569

RCV001781180

ClinVar Variation:

4325

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.His350Arg	CA253105 NM_001005741.2:c.1049A>G