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.[Gly314_Thr315insPro;Glu317_Glu337delinsAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThrLeuArgSerAlaThrSerAla;Leu339_Cys340delinsAla;Asp342_Phe344delinsThrAlaSer]
CA2497030140
ENST00000558013.5:c.943del