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_001182727.1:p.[Pro745_Thr749delinsSerAspAsnVal;Arg751_Leu752del;Gly754_Pro757delinsSerSer;Leu759_His769delinsArgArgCysTrp;Ala771_Gly777del;Gly779_Glu781del;Lys783_Val793del]
CA658799127
NM_001195798.2:c.2233_2291del
CA2573156041
NM_001195798.2:c.2232_2290del