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.[Ser206_Ser213delinsLys;Cys216_Gly219delinsValHis;Asp221_Cys231delinsLeuGlnLeu;Val233_Thr235delinsLeu]
CA10585013
NM_000527.5:c.616dup