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.[Met350_Cys370del;Ser372_Gly373del;Cys375_Asp379delinsArg]
CA2497030138
ENST00000252444.10:c.1047dup