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
ENSP00000453346.1:p.Pro608Leu
CA10585631
ENST00000558013.5:c.1823C>T
CA645611147
ENST00000558013.5:c.1823_1824delinsTT