Canonical Allele Identifier: PA2741841746
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2851350
ClinVar RCV Id: RCV003742188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Trp810Cys
CA404098675
NM_001195798.2:c.2430G>C
CA404098681
NM_001195798.2:c.2430G>T