Allele Registry

Canonical Allele Identifier: PA2825068729

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV001004134

RCV002282424

ClinVar Variation:

813341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Arg170His	CA1141729 NM_000157.4:c.509G>A