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
ENSP00000252444.6:p.[Glu314_Phe327delinsGlyLeu;Cys329_Asp331del;Asn333_Cys334delinsGln;His336_Arg343del]
CA2695238672
ENST00000252444.10:c.919_940dup