Canonical Allele Identifier: PA211612
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36462
ClinVar RCV Id: RCV000030135 RCV000058923 RCV000855648 RCV001079897 RCV002051648 RCV002453272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val827Ile
CA023677
NM_000527.5:c.2479G>A