Allele Registry

Canonical Allele Identifier: PA2825068705

Gene: GBA1 HGNC NCBI

ClinVar Allele:

194862

ClinVar RCV:

RCV000178813

RCV001249026

ClinVar Variation:

197701

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Leu144Arg	CA275304 NM_000157.4:c.431T>G