Canonical Allele Identifier: PA645380260
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252213
ClinVar RCV Id: RCV000237838

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala697Pro
CA10585767
NM_000527.5:c.2089G>C