Allele Registry

Canonical Allele Identifier: PA2826088873

Gene: GBA1 HGNC NCBI

ClinVar Allele:

237954

ClinVar RCV:

RCV000417294

RCV001175549

RCV001782727

ClinVar Variation:

242383

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Arg448Cys	CA1141476 NM_001171811.2:c.1342C>T