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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Ser194_Ser195delinsIleAla;Cys197_Ser198del;Phe200_Leu205delinsArgPro;Gly207_His211del;Trp214_Lys223delinsThrAla]
CA993532450
NM_001195798.2:c.581del