Allele Registry

Canonical Allele Identifier: PA253091

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004560

ClinVar Variation:

4316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Ala348Val	CA253090 NM_001005741.2:c.1043C>T