Canonical Allele Identifier: PA2580170331
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2447491
ClinVar RCV Id: RCV003176469
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser517Ala
CA404086566
NM_001195798.2:c.1549T>G