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
ENSP00000453696.2:p.[Tyr188_Gln191delinsSerCysSerLys;Asp193_Ser195delinsThrValAla;Cys197_Ser198del;Phe200_Leu205delinsArgPro;Gly207_His211del;Trp214_Asp217delinsThrAla]
CA2497030122
ENST00000559340.2:c.563del