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
ENSP00000453513.2:p.Arg738Ser
CA404096701
ENST00000560467.2:c.2214A>C
CA404096702
ENST00000560467.2:c.2214A>T