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
ENSP00000453513.2:p.[Ser453_Val454del;Gly456_Val458del;Val460Trp;Asp462_Thr470delinsLeuSerLeu;Phe472del;Glu474_Lys478delinsIle;Ile482del]
CA16602330
ENST00000560467.2:c.1358del