Canonical Allele Identifier: PA2580164428
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1980849
ClinVar RCV Id: RCV002761653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp239Asn
CA404079487
NM_001195798.2:c.715G>A