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.[Lys335_Cys336del;Cys338_Asp345delinsVal;His347_Ala353del;Gly355_Asn364del]
CA2497030056
ENST00000535915.5:c.1002dup