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
ENSP00000507320.1:p.[Ala22_Trp24delinsGly;Trp26_Gln35delinsLeuAlaLeuAlaSerGluLeuProAsnLeu;Tyr37_Val38delinsProAla;Tyr40Arg;Asn42_Phe44delinsLeuProGlu;Phe46_Asp49delinsLeuSerIlePro;Ser51delinsArgCysGln]
CA2695220962
ENST00000684125.1:c.64dup