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.[Ser554_Val558delinsGlnLeuHisSer;Thr560_His562delinsLysAsp;Thr564_Val568delinsAlaHisAsnHis;Asp570_Thr571delinsThrCys;Arg573_Leu574insHis;Gly576Ala;Thr578delinsTrpGlyHis;Gly580_Thr583delinsTrpAlaHisHis]
CA2573156040
NM_001195803.2:c.1659dup