Allele Registry

Canonical Allele Identifier: PA2826088929

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004574

RCV000020155

ClinVar Variation:

4329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165283.1:p.Arg121Leu	CA253112 NM_001171812.2:c.362G>T