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.[Ile247_Trp251delinsSerCysGlyPro;Cys253_Asp256delinsThrThrThr;Asp258_Gln277delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys]
CA10584942
ENST00000252444.10:c.740_746del