Canonical Allele Identifier: PA2826214719
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_001182729.1:p.Cys196Arg
CA10585298
NM_001195800.2:c.586T>C