Allele Registry

Canonical Allele Identifier: PA094124

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000180536

RCV000781410

RCV001248921

ClinVar Variation:

93444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Asp354His	CA221379 NM_000157.4:c.1060G>C