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
ENSP00000454071.1:p.Glu229_Glu258del
CA10585077
ENST00000558518.6:c.681_682insTGAG
CA2499225313
ENST00000558518.6:c.678_681dup