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.[Asn688Thr;His690_Ser691delinsThrArg;Lys693_Cys696delinsSerLeuPro;Cys698del;Asp700_Leu704del;Asp707_Ser710delinsThrAlaCys;Leu712_Ala717delinsTrpProGlyThr]
CA10585756
NM_000527.5:c.2063del
CA645373258
NM_000527.5:c.2061del