Allele Registry

Canonical Allele Identifier: PA915991829

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000487788

RCV000586576

RCV002468938

ClinVar Variation:

242811

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Asp92His	CA028499 NM_001171811.2:c.274G>C