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.[Asp560_His566delinsArgGlyTrpProThrProSer;Phe568delinsTrpPro;Ala571_Asp575delinsArgThr;Val577Tyr;Trp579_Asp581delinsGlyGln;Ile583_Ile587delinsSerSerThrLysPro;Ala590_Asn591delinsValPro]
CA2582475120
NM_001195799.2:c.1677_1683del