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
ENSP00000453346.1:p.[Asp293_Trp305delinsGlyGln;Asp307_Cys313delinsLeuGlnHis;Thr315_Asn322del]
CA2695228119
ENST00000558013.5:c.877dup