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.[Met223_Thr233delinsAlaMetLys;Cys235_Thr250delinsAlaAla;Asp252_Lys253delinsMet]
CA10585132
ENST00000535915.5:c.667_670del