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.Thr198Ser
CA342721328
ENST00000427500.7:c.593C>G
CA342721367
ENST00000427500.7:c.592A>T