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
ENSP00000453513.2:p.[Asn648Thr;His650_Ser651delinsThrArg;Lys653_Cys656delinsSerLeuPro;Cys658del;Asp660_Leu664del;Asp667_Ser670delinsThrAlaCys;Leu672_Ala677delinsTrpProGlyThr]
CA10585756
ENST00000560467.2:c.1943del
CA645373258
ENST00000560467.2:c.1941del