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
XP_005271589.1:p.[His222_Asp223del;Glu225_Leu228delinsArgSer;Cys230_Ile231delinsAspSer;Glu233_Phe236delinsSer;Arg238del;Leu240_His251delinsArg]
CA2695215834
XM_005271532.1:c.664dup