Allele Registry

Canonical Allele Identifier: PA094110

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000487788

RCV000586576

RCV002468938

ClinVar Variation:

242811

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Asp179His	CA028499 NM_000157.4:c.535G>C