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.[Asp172_Gln191delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys;Asp193_Ser195delinsThrValAla;Cys197_Glu201delinsAlaArgProSer]
CA10584955
ENST00000558013.5:c.513del