Canonical Allele Identifier: PA2826216256
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251540
ClinVar RCV Id: RCV000237523 RCV000791350 RCV002374402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys186Trp
CA030215
NM_001195803.2:c.558C>G