Canonical Allele Identifier: PA645377999
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251652
ClinVar RCV Id: RCV000237343 RCV000811581
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys358Arg
CA10585293
NM_000527.5:c.1072T>C