Canonical Allele Identifier: PA2826215721
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927977
ClinVar RCV Id: RCV001191575 RCV004010525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val559Ile
CA039072
NM_001195800.2:c.1675G>A