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
ENSP00000397829.2:p.Val485Ala
CA305302665
ENST00000455727.6:c.1454T>C
CA2322775423
ENST00000455727.6:c.1454_1455delinsCC