Canonical Allele Identifier: PA2826216455
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251681
ClinVar RCV Id: RCV000237613 RCV002321916 RCV002518484 RCV003736671
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys250Tyr
CA10585320
NM_001195803.2:c.749G>A