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.[Asn128_Asp129delinsLysArg;Asp131_Gln141delinsArgLeu;Cys143del;Gly145Trp;Tyr147_Gln150del;Asp152_Ser157del]
CA2830763873
ENST00000535915.5:c.383dup