Canonical Allele Identifier: PA2826217019
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252003
ClinVar RCV Id: RCV000238353 RCV001377886 RCV002401945 RCV003897581
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp450Ser
CA036295
NM_001195803.2:c.1349G>C