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
ENSP00000252444.6:p.[Asp379_Trp391delinsGlyGln;Asp393_Cys399delinsLeuGlnHis;Thr401_Asn408del]
CA2695228119
ENST00000252444.10:c.1135dup