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
ENSP00000440520.1:p.[Cys317_Cys323del;Gln325_Cys327del;Asn329_Pro346delinsArgIleProThrProAlaAlaSerSerAla]
CA2499225316
ENST00000535915.5:c.947_948dup