Canonical Allele Identifier: PA100511
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369848
ClinVar RCV Id: RCV000408876 RCV002230212 RCV002275000 RCV002429335
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys368Arg
CA10654849
NM_000527.5:c.1102T>C