Allele Registry

Canonical Allele Identifier: PA2826088675

Gene: GBA1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

38432

ClinVar RCV:

RCV000252989

RCV000414984

RCV000415149

RCV000415387

RCV000487503

RCV001248923

RCV001509572

RCV001836745

ClinVar Variation:

199044

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Glu278Lys	CA028579 NM_001171811.2:c.[832G>A;274G>C] CA275447 NM_001171811.2:c.832G>A