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
ENSP00000453346.1:p.[Phe114_Ser123delinsValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Asp129delinsHisLeu;Asp131_Cys134delinsAlaValArg;Asp136_Cys143del]
CA10584861
ENST00000558013.5:c.339dup