Canonical Allele Identifier: PA235481
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183135
ClinVar RCV Id: RCV000162015 RCV001182069 RCV003998539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val800Ile
CA023664
NM_000527.5:c.2398G>A