Canonical Allele Identifier: PA2826214066
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226393
ClinVar RCV Id: RCV000211628 RCV000497399 RCV000587818 RCV000844752 RCV002453757
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val756Met
CA040347
NM_001195799.2:c.2266G>A