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.[Ile161_Trp165delinsSerCysGlyPro;Cys167_Asp170delinsThrThrThr;Asp172_Gln191delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys]
CA10584942
ENST00000558013.5:c.482_488del