Canonical Allele Identifier: PA2826216434
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251665
ClinVar RCV Id: RCV000237712 RCV000781493 RCV001800607 RCV002429173
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys241Tyr
CA032090
NM_001195803.2:c.722G>A