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.Met298Ile
CA404080974
NM_000527.5:c.894G>A
CA404080976
NM_000527.5:c.894G>C
CA404080978
NM_000527.5:c.894G>T