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
ENSP00000437639.1:p.[Gly187_Thr188insPro;Glu190_Glu210delinsAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThrLeuArgSerAlaThrSerAla;Leu212_Cys213delinsAla;Asp215_Phe217delinsThrAlaSer]
CA2497030140
ENST00000545707.5:c.562del