Canonical Allele Identifier: PA645376120
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251223
ClinVar RCV Id: RCV000237461 RCV001186868 RCV002327173 RCV002223826
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr147Ile
CA10584919
NM_000527.5:c.440C>T