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.[Glu174_Gln191delinsLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys;Asp193_Ser195delinsThrValAla;Cys197_His203delinsAlaArgProSerSerSerThr]
CA2695223204
ENST00000558013.5:c.520del