Canonical Allele Identifier: PA916000275
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251890
ClinVar RCV Id: RCV000238197 RCV002518487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg513Lys
CA10585496
NM_001195798.2:c.1538G>A