Canonical Allele Identifier: PA2580170805
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2165924
ClinVar RCV Id: RCV003084619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu714Ala
CA404094732
NM_001195798.2:c.2141A>C