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.[Ala865_Ala867delinsLeuGlu;Pro869_Arg870del;Arg872_Trp873delinsGlyGln;Val875_Pro885delinsGly;Val887_Ser898del]
CA2499225335
ENST00000557933.5:c.2592_2604del