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
ENSP00000314508.5:p.Ser439Arg
CA342713141
ENST00000327247.9:c.1317T>G
CA342713143
ENST00000327247.9:c.1317T>A
CA342713188
ENST00000327247.9:c.1315A>C