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_001182728.1:p.[Ile120_Trp124delinsSerCysGlyPro;Cys126_Asp129delinsThrThrThr;Asp131_Gln150delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys]
CA10584942
NM_001195799.2:c.359_365del