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.[Lys462_Cys463del;Cys465_Asp472delinsVal;His474_Ala480del;Gly482_Asn491del]
CA2497030056
ENST00000252444.10:c.1383dup