Allele Registry

Canonical Allele Identifier: PA645388450

Gene: GBA1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

99356

ClinVar RCV:

RCV000414719

RCV000663363

RCV000781411

RCV001004111

RCV001248963

RCV001808310

RCV003335096

ClinVar Variation:

93449

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Leu483Arg	CA16040607 NM_001005741.2:c.1448T>G