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.[Val586_Thr596del;Phe598del;Glu600_Lys604delinsIle;Ile608_Gly615del]
CA2695228116
ENST00000252444.10:c.1756del