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
ENSP00000252444.6:p.Cys465Ser
CA404083647
ENST00000252444.10:c.1393T>A
CA404083660
ENST00000252444.10:c.1394G>C