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
ENSP00000453557.1:p.[Glu312_Cys318delinsValArgAspGlnArgMet;Asp320_Asn322del;Gly324_Asp331delinsGlnGlnArgArg;Lys333_Cys338delinsPheProArg;Cys340_Asp342delinsGln]
CA10585205
ENST00000557933.5:c.935_936del