Canonical Allele Identifier: PA2741841272
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2800180
ClinVar RCV Id: RCV003741572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu179Ala
CA404077094
NM_001195798.2:c.536A>C