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
ENSP00000314508.5:p.Phe290Leu	CA253114 ENST00000327247.9:c.870C>A CA342719762 ENST00000327247.9:c.870C>G CA342719796 ENST00000327247.9:c.868T>C