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.[Lys393_Met402delinsThrTrpThrGlnTrp;Pro404_Ile424del]
CA2573131121
ENST00000428024.3:c.1178_1184del