Allele Registry

Canonical Allele Identifier: PA253080

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004551

RCV001248859

RCV003133115

ClinVar Variation:

4309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Tyr251His	CA253079 NM_001005741.2:c.751T>C