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.[Asp387_Cys404del;Asp406_His413del;Cys415_Lys419delinsArg]
CA1139666262
ENST00000252444.10:c.1159_1169del