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.Trp706Arg
CA10585657
ENST00000252444.10:c.2116T>C
CA404092386
ENST00000252444.10:c.2116T>A