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.Cys388Ser
CA404081017
ENST00000252444.10:c.1162T>A
CA404081026
ENST00000252444.10:c.1163G>C