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
NP_113584.3:p.Gln4272_Thr4301delinsSerProThrLeuPheArgSerSerGlySerGlyGluHisCysValLeuSerIleLysLeuThrValProSerSerSerSerLeuSerGln
CA2557723699
NM_031407.7:c.12814del