Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

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

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000402577.2:p.Glu316Lys	CA028579 ENST00000427500.7:c.[946G>A;388G>C] CA275447 ENST00000427500.7:c.946G>A