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
ENSP00000440520.1:p.[Asp733_Asn739delinsGluLeuLeuAlaGlu;Lys741_Val746delinsMetArg;Ala748_Leu749del;Ile751_Leu753del;Ile755del;Leu757_Leu763delinsAla]
CA039767
ENST00000535915.5:c.2199del