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
ENSP00000252444.6:p.[Asp352_His371del;Gly373_Thr377delinsTrp;Asp379_Cys382delinsArg]
CA645509268
ENST00000252444.10:c.1054_1058del