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_001182727.1:p.[Phe629Ser;Ala631_Leu634delinsValPro;Gly636Ala;Asp638Gln;Asn640_Asn645delinsProMetSerThrCysTrp;Leu647_Leu654delinsLysThrTyrCysProGlnArgIleTrp;His656_Leu658delinsSerSerThrThrSer]
CA2695228158
NM_001195798.2:c.1885_1886insCA