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_001182729.1:p.[Thr195_Cys196delinsArgVal;Gln198_Asn202delinsGlySerArgHis;Glu204_Cys211delinsGlnProAlaLeuArg;Glu213Pro;Phe215_Gln216delinsGlyTrp;Asp218_Cys224delinsGlnValProVal]
CA2695238674
NM_001195800.2:c.565_583dup