Canonical Allele Identifier: PA645377559
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251498
ClinVar RCV Id: RCV000237605 RCV003456384
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys294Glu
CA10585171
NM_000527.5:c.880A>G