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.[Phe344_Asp360delinsSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp362del;Cys364_Gly373delinsProAlaAlaSerSerAla]
CA10585259
ENST00000558518.6:c.1031del