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_001182732.1:p.[Pro567_Thr571delinsSerAspAsnVal;Arg573_Leu574del;Gly576_Pro579delinsSerSer;Leu581_His591delinsArgArgCysTrp;Ala593_Gly599del;Gly601_Glu603del;Lys605_Val615del]
CA658799127
NM_001195803.2:c.1699_1757del
CA2573156041
NM_001195803.2:c.1698_1756del