Allele Registry

Canonical Allele Identifier: PA253070

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004544

ClinVar Variation:

4303

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Val437Phe	CA253069 NM_001005741.2:c.1309G>T