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
NP_000518.1:p.Phe694Leu
CA404093831
NM_000527.5:c.2080T>C
CA404093840
NM_000527.5:c.2082T>A
CA404093842
NM_000527.5:c.2082T>G