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_000518.1:p.[Ile624_Ile628delinsSerThrLysPro;Ala631_Leu634delinsValPro;Gly636Ala;Asp638Gln;Asn640_Asn645delinsProMetSerThrCysTrp;Leu647_Ser648delinsLysThrTyrCys;Glu650_Val653delinsGlnArgIleTrpPhe]
CA2582475368
NM_000527.5:c.1870del