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.[Lys311Arg;Cys313Trp]
CA645373256
ENST00000560467.2:c.[932A>G;939C>G]
CA658656796
ENST00000560467.2:c.932_939delinsGAGAGTGG