Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: GBA1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005742.1:p.Val253Leu	CA342721160 NM_001005742.2:c.757G>C CA342721162 NM_001005742.2:c.757G>T