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
ENSP00000397829.2:p.[His239_Val241delinsProAla;Lys243_Leu246delinsGlyGlnGluAsp;Arg248_Ser249delinsAlaGlyPro;Tyr251_Ile255delinsArgValHisGlnProHis;Asn257_Glu267delinsGlnProGluGluArgGlyArgSerGlyHisGlyGly]
CA913188986
ENST00000455727.6:c.710_713dup