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: HUWE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011529054.1:p.Gln4354_Thr4383delinsSerProThrLeuPheArgSerSerGlySerGlyGluHisCysValLeuSerIleLysLeuThrValProSerSerSerSerLeuSerGln
CA2557723699
XM_011530752.1:c.13060del