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
ENSP00000454071.1:p.[Val793_Leu794delinsCysPro;Ile796_Phe801delinsHisArgAlaProArg;Cys803Pro;Gly805_Phe807delinsProGlyGly;Leu809_Arg814delinsProSerMetGluGlu;Lys816_Asn822delinsAlaAla]
CA2830773967
ENST00000558518.6:c.2376dup