Allele Registry

Canonical Allele Identifier: PA275429

Gene: GBA1 HGNC NCBI

ClinVar Allele:

195917

ClinVar RCV:

RCV000180196

RCV001248862

RCV002500517

ClinVar Variation:

198757

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Ile299Thr	CA275428 NM_001005741.2:c.896T>C