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.Ser243Arg
CA404076636
ENST00000252444.10:c.727A>C
CA404076648
ENST00000252444.10:c.729C>A
CA404076651
ENST00000252444.10:c.729C>G