Canonical Allele Identifier: PA2826213093
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161276
ClinVar RCV Id: RCV000211581 RCV000519267 RCV000775060 RCV002051669 RCV002362782
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Thr372Met
CA023439
NM_001195799.2:c.1115C>T