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_001182728.1:p.[Asp180_Phe200delinsGlnLeu;Cys202_Asp204del;Asn206_Cys207delinsGln;His209del]
CA2573332391
NM_001195799.2:c.538delinsCA