Canonical Allele Identifier: PA916001261
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252298
ClinVar RCV Id: RCV000237754 RCV000808288 RCV002429177
ClinVar Variation Id: 565983
ClinVar RCV Id: RCV000685681 RCV002458198
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val797Leu
CA10585836
NM_001195798.2:c.2389G>T
CA404096927
NM_001195798.2:c.2389G>C