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.Val450Leu
CA501136
ENST00000427500.7:c.1348G>C
CA342710917
ENST00000427500.7:c.1348G>T