Canonical Allele Identifier: PA1139697838
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927149
ClinVar RCV Id: RCV001190237 RCV002504206 RCV003478725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg257Gln
CA029330
NM_001195798.2:c.770G>A