Canonical Allele Identifier: PA915999736
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183109
ClinVar RCV Id: RCV000161981 RCV000237472 RCV001211912 RCV001800473 RCV002336376
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala399Thr
CA023430
NM_001195798.2:c.1195G>A