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
ENSP00000454071.1:p.[Glu626_Ile628delinsLysPro;Ala631_Leu634delinsValPro;Gly636Ala;Asp638Gln;Asn640_Asn645delinsProMetSerThrCysTrp;Leu647_Leu654delinsLysThrTyrCysProGlnArgIleTrp;Phe655_His656insSerSer]
CA10585670
ENST00000558518.6:c.1876del