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.Lys393Asn
CA10585338
ENST00000558013.5:c.1179G>C
CA404083967
ENST00000558013.5:c.1179G>T