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
ENSP00000453557.1:p.Gln739His
CA404095095
ENST00000557933.5:c.2217G>C
CA404095103
ENST00000557933.5:c.2217G>T