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.[Asp578_Val580delinsThr;Gly582_Val584del;Val586Trp;Asp588_Thr596delinsLeuSerLeu;Phe598del;Glu600_Lys604delinsIle]
CA645373232
ENST00000252444.10:c.1732del