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.[Asp356del;Cys358_Leu371del;Gly373_Leu385del]
CA2582474403
NM_000527.5:c.1067_1068insAGAG