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_000148.2:p.Asp482Glu	CA342711566 NM_000157.4:c.1446C>G CA342711567 NM_000157.4:c.1446C>A