Canonical Allele Identifier: PA2826211533
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2099142
ClinVar RCV Id: RCV003021566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp129Ala
CA404076334
NM_001195798.2:c.386A>C