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.Ser692Arg
CA404094953
ENST00000560467.2:c.2074A>C
CA404094969
ENST00000560467.2:c.2076C>A
CA404094971
ENST00000560467.2:c.2076C>G