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_001182728.1:p.[Leu330_His347delinsArgThrTrpArgValAlaThrSerAlaSerValArgLysAlaSerSerTrpThrPro;Lys349delinsArgArgPro;Cys351_Gly355delinsArgLeuTrpAlaPro;Ile357_Tyr359delinsProThr]
CA2573050592
NM_001195799.2:c.984_988dup