Canonical Allele Identifier: PA916000310
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3696
ClinVar RCV Id: RCV000003884 RCV000161992 RCV000587718 RCV000825622 RCV002399309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val523Met
CA023525
NM_001195798.2:c.1567G>A