Canonical Allele Identifier: PA2825180453
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1379706
ClinVar RCV Id: RCV001883908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr621Ile
CA404092420
NM_000527.5:c.1862C>T