Allele Registry

Canonical Allele Identifier: PA028561

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000487788

RCV000586576

RCV002468938

ClinVar Variation:

242811

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Asp179His	CA028499 NM_001005741.2:c.535G>C