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
ENSP00000437639.1:p.[Asp166_Trp178delinsGlyGln;Asp180_Cys186delinsLeuGlnHis;Thr188_Asn195del]
CA2695228119
ENST00000545707.5:c.496dup