Canonical Allele Identifier: PA916000120
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161277
ClinVar RCV Id: RCV000211688 RCV000826171 RCV000775069 RCV001256967 RCV002051670 RCV002390310
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly478Arg
CA023495
NM_001195798.2:c.1432G>A
CA404085987
NM_001195798.2:c.1432G>C