Allele Registry

Canonical Allele Identifier: PA2826089247

Gene: GBA1 HGNC NCBI

ClinVar Allele:

486866

ClinVar RCV:

RCV000589122

RCV001212081

ClinVar Variation:

496081

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165283.1:p.Asp389Asn	CA342713229 NM_001171812.2:c.1165G>A