Allele Registry

Canonical Allele Identifier: PA915991817

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV001004134

RCV002282424

ClinVar Variation:

813341

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Arg83His	CA1141729 NM_001171811.2:c.248G>A