Allele Registry

Canonical Allele Identifier: PA2826089091

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004547

ClinVar Variation:

4305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165283.1:p.Pro279Leu	CA253072 NM_001171812.2:c.836C>T