Allele Registry

Canonical Allele Identifier: PA095047

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004551

RCV001248859

RCV003133115

ClinVar Variation:

4309

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Tyr251His	CA253079 NM_000157.4:c.751T>C