Canonical Allele Identifier: PA2826213338
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251874
ClinVar RCV Id: RCV000238372 RCV000519148 RCV000770762 RCV002392745
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala460Val
CA034573
NM_001195799.2:c.1379C>T