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.Cys463Ser
CA10585321
ENST00000252444.10:c.1388G>C
CA404083611
ENST00000252444.10:c.1387T>A
CA2497030183
ENST00000252444.10:c.1388_1389delinsCT