Allele Registry

Canonical Allele Identifier: PA245986

Gene: GBA1 HGNC NCBI

ClinVar Allele:

194863

ClinVar RCV:

RCV000178814

RCV001249027

RCV001808455

RCV004020131

ClinVar Variation:

197702

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Ser146Leu	CA245985 NM_001005741.2:c.437C>T