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.Ser796Arg
CA404093973
ENST00000252444.10:c.2386A>C
CA404093977
ENST00000252444.10:c.2388C>A
CA404093978
ENST00000252444.10:c.2388C>G