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
ENSP00000252444.6:p.[Ser238_Ile247delinsLysLeuProValGlnGlnLeuHisLeuHis;Gln249_Asp256delinsProAlaValGlyLeuArgGlnArg;Asp258_Pro267delinsArgLeuArgArgTrpLeuGly]
CA2695195460
ENST00000252444.10:c.712dup