Canonical Allele Identifier: PA100249
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251219
ClinVar RCV Id: RCV000237201 RCV000775039
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys143Arg
CA10584916
NM_000527.5:c.427T>C