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.[Pro534_Ala542delinsHis;Glu545_Leu551delinsHis;Val553_Val558del;Thr560_Thr563delinsGly]
CA2813590029
NM_001195803.2:c.1600_1601insACACCCAACA