Canonical Allele Identifier: PA915998453
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251258
ClinVar RCV Id: RCV000238302 RCV001071431 RCV002338782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp168His
CA10584950
NM_001195798.2:c.502G>C