Canonical Allele Identifier: PA916000229
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251864
ClinVar RCV Id: RCV000238035 RCV000587515 RCV001284639 RCV002392743
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp492His
CA10585474
NM_001195798.2:c.1474G>C