Allele Registry

Canonical Allele Identifier: PA915991797

Gene: GBA1 HGNC NCBI

ClinVar Allele:

195271

ClinVar RCV:

RCV000179352

RCV003323429

ClinVar Variation:

198110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Met75Thr	CA246603 NM_001171811.2:c.224T>C