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
ENSP00000252444.6:p.[His546_Val548delinsProAla;Ser550_Asp552delinsLeuProMet;Val554_Ile555delinsProSer;Arg557_Ala561delinsAlaGluThrSerArg;Asp563_Asp568delinsProThrGlyTrpLeu;Ile570_His571delinsThrGly;Asn573_Tyr575delinsThrAlaThrSerThr]
CA2695228176
ENST00000252444.10:c.1637del