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
NP_001182732.1:p.[Val649_Thr654delinsArgLeuSer;Glu657_Val658del;Ile660_Asp665delinsArg;Tyr667_Glu678del]
CA10585872
NM_001195803.2:c.1944dup