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.Ser818Arg
CA404094953
ENST00000252444.10:c.2452A>C
CA404094969
ENST00000252444.10:c.2454C>A
CA404094971
ENST00000252444.10:c.2454C>G