Canonical Allele Identifier: PA2826212182
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251043
ClinVar RCV Id: RCV000238185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu58Lys
CA10584773
NM_001195799.2:c.172G>A