Canonical Allele Identifier: PA916000531
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 237867
ClinVar RCV Id: RCV000228158 RCV001339707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg574Leu
CA036228
NM_001195798.2:c.1721G>T