Canonical Allele Identifier: PA2826217301
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252259
ClinVar RCV Id: RCV000237861 RCV000455106 RCV001186236
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Thr564Ile
CA039172
NM_001195803.2:c.1691C>T