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.[Glu317_Asp331delinsAspAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThr;Lys333_Cys340delinsArgSerAlaThrSerAlaCysAla;Asp342_Val347delinsThrAlaSerSerTrp]
CA10585224
NM_000527.5:c.951del