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.[Val189_Ser195delinsCys;Cys197_Trp214del;Cys216_Asp217del;Gly219Gln]
CA645373226
NM_001195798.2:c.565_568delinsTG