Canonical Allele Identifier: PA915999793
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36453
ClinVar RCV Id: RCV000030125 RCV000844747 RCV001034664 RCV001537253 RCV002051647 RCV002362601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu408Lys
CA023437
NM_001195798.2:c.1222G>A