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
ENSP00000453557.1:p.Lys783Asn
CA404096777
ENST00000557933.5:c.2349G>C
CA404096778
ENST00000557933.5:c.2349G>T