Allele Registry

Canonical Allele Identifier: PA2826088942

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000487788

RCV000586576

RCV002468938

ClinVar Variation:

242811

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165283.1:p.Asp130His	CA028499 NM_001171812.2:c.388G>C