Allele Registry

Canonical Allele Identifier: PA094150

Gene: GBA1 HGNC NCBI

ClinVar Allele:

486866

ClinVar RCV:

RCV000589122

RCV001212081

ClinVar Variation:

496081

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Asp438Asn	CA342713229 NM_000157.4:c.1312G>A