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
NP_001182732.1:p.[Leu626delinsAlaTrp;Val628_Arg636delinsSerSerPheTyrGlyArgThrGlyGly;Lys638_Asn647delinsArgThrSerThrAlaSerThrLeuThrThr;Val649_Glu655delinsSerIleArgArgProGln]
CA10585856
NM_001195803.2:c.1874_1875dup