Canonical Allele Identifier: PA915999548
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251657
ClinVar RCV Id: RCV000238003 RCV000775056 RCV000786349 RCV002446476
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys364Arg
CA10585298
NM_001195798.2:c.1090T>C