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
ENSP00000397986.2:p.Ser318Arg
CA30894738
ENST00000428024.3:c.954C>G
CA30894739
ENST00000428024.3:c.954C>A
CA342714654
ENST00000428024.3:c.952A>C