Canonical Allele Identifier: PA1139685970
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979067
ClinVar RCV Id: RCV001258045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu682Arg
CA404093642
NM_001195798.2:c.2045T>G