Allele Registry

Canonical Allele Identifier: PA253073

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004547

ClinVar Variation:

4305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Pro328Leu	CA253072 NM_001005741.2:c.983C>T