Allele Registry

Canonical Allele Identifier: PA253085

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004556

ClinVar Variation:

4313

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Val54Leu	CA253084 NM_001005741.2:c.160G>T CA342728253 NM_001005741.2:c.160G>C