Canonical Allele Identifier: PA235464
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183127
ClinVar RCV Id: RCV000162004 RCV000211563 RCV000454999 RCV000771317 RCV002408721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu626Lys
CA023604
NM_000527.5:c.1876G>A