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.[Ile314_Asp319delinsSerMetSerValArgIle;Asp321del;Cys323_Gln343delinsProAlaAlaSerSerAla]
CA2838032756
ENST00000535915.5:c.940del