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_001182729.1:p.[Ile455_Ile460delinsHisGlnArgSerHis;Ser462_Asn472delinsGlnCysGlnProProHisArgPheArgCysGln;Leu474_Met484delinsValGly]
CA10585666
NM_001195800.2:c.1363_1364del