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
ENSP00000397829.2:p.[Cys190_Cys196del;Gln198_Cys200del;Asn202_Pro219delinsArgIleProThrProAlaAlaSerSerAla]
CA2499225316
ENST00000455727.6:c.566_567dup