Allele Registry

Canonical Allele Identifier: PA2826088702

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004564

RCV002281038

ClinVar Variation:

4320

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Ser316Thr	CA253096 NM_001171811.2:c.947G>C