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: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000456489.1:p.[Gly285_Gly288delinsLeuAla;Val290_Ser293del;Asn295_Asp314delinsAspGln]
CA2575781217
ENST00000567159.5:c.851_852dup