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_001182727.1:p.[Asp616_Arg633delinsTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGln;Thr635Val;Ser637_Asp651del]
CA645373237
NM_001195798.2:c.1846_1865del