Allele Registry

Canonical Allele Identifier: PA2825277705

Gene: GBA1 HGNC NCBI

ClinVar Allele:

195271

ClinVar RCV:

RCV000179352

RCV003323429

ClinVar Variation:

198110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005742.1:p.Met162Thr	CA246603 NM_001005742.2:c.485T>C