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.[Asn645_Ser648delinsLysProThrVal;Glu650_Asn657delinsArgGlyTyrGlySer;Thr659Pro;Arg662_Cys667delinsHisProAlaLysArgSer;Arg669_Thr671del;Ser673_Asn674delinsVal]
CA10585684
NM_000527.5:c.1934dup