Canonical Allele Identifier: PA645380593
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431548
ClinVar RCV Id: RCV000497247 RCV001178331 RCV001805116
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala771Val
CA039683
NM_000527.5:c.2312C>T