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
ENSP00000453513.2:p.[Glu228_Glu229delinsAlaArgThr;Cys231_Ala234delinsLeuThrArgLys;Cys236_Arg237delinsAlaLeuTrp;Asp239_Cys243delinsProValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Arg257delinsMetAlaAlaGlySerValThrGly]
CA16602306
ENST00000560467.2:c.666_682dup