Canonical Allele Identifier: PA645377102
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251432

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile249Thr
CA10585112
NM_000527.5:c.746T>C