Canonical Allele Identifier: PA916000245
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251874
ClinVar RCV Id: RCV000238372 RCV000519148 RCV000770762 RCV002392745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala501Val
CA034573
NM_001195798.2:c.1502C>T