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.Thr75Ser	CA342727482 NM_001005742.2:c.224C>G CA342727485 NM_001005742.2:c.223A>T