Canonical Allele Identifier: PA2826215832
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252295
ClinVar RCV Id: RCV000238445 RCV001523921 RCV001558972 RCV002247687 RCV003372668
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ile624Thr
CA040016
NM_001195800.2:c.1871T>C