Canonical Allele Identifier: PA2825179315
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1986771
ClinVar RCV Id: RCV002805603

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr413Arg
CA404084747
NM_000527.5:c.1238C>G