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
ENSP00000440520.1:p.[Glu187_Phe200delinsGlyLeu;Cys202_Asp204del;Asn206_Cys207delinsGln;His209_Arg216del]
CA2695238672
ENST00000535915.5:c.538_559dup