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.[Gln770_Leu772delinsHisGly;Val775_Gly779delinsSerAsp;Glu781_Lys783delinsValSer;Val787Gly;Ala789_Leu799delinsArgCysTrpGlnArgLys]
CA2573156030
NM_000527.5:c.2282_2309dup