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
ENSP00000453513.2:p.[Asp193_Ser195delinsGluValAla;Cys197_Ser198del;Phe200_Leu205delinsArgPro;Gly207_His211del;Trp214_Lys223delinsThrAla]
CA916080162
ENST00000560467.2:c.579del