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.[Arg690_Leu691delinsGlu;His693Gly;Phe695_Ser696delinsProLeu;Ala698_Asn718delinsLeuGlyArgLeu]
CA658799141
ENST00000252444.10:c.2066dup