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: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000376584.1:p.[Glu241del;Gly243_Val248delinsArgArgLeuGlnCys;Val250_Thr252delinsSerSerArg;Met254_Leu261delinsTyrSerTyrGluGlyTrpAla;Gly263_Val265delinsValProAsp;Trp266_Ser267insArg;Asp269delinsGluSerArgArg]
CA2580083652
ENST00000392841.1:c.719dup