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
ENSP00000278715.3:p.[Pro208_Glu210delinsLeuArgAsnAla;Tyr213delinsLeuTrp;Val215Arg;Gln217_Gly218delinsProTrp;Leu220_Val222delinsTrpLysCys;Val224Pro;Ala226_Asp230delinsThrArgThrSerTrp;Leu232_Leu234delinsTrpTrp;Gly236_Val237delinsCys]
CA2573146996
ENST00000278715.7:c.623del