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_001182729.1:p.[Glu189_Asp192delinsValArgIle;Asp194del;Cys196del;Gln198_Cys200del;Asn202_Asp218delinsArgIleProThrProAlaAlaSerSerAla]
CA2582474404
NM_001195800.2:c.565_566insTCAGGATCCCGACG