Canonical Allele Identifier: PA2826214942
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1518023
ClinVar RCV Id: RCV002041241 RCV002386926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val268Glu
CA404085099
NM_001195800.2:c.803T>A