Canonical Allele Identifier: PA2826214605
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226344
ClinVar RCV Id: RCV000211666 RCV001293738 RCV001812218 RCV002381726
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys161Tyr
CA031041
NM_001195800.2:c.482G>A