Canonical Allele Identifier: PA2826215624
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375829
ClinVar RCV Id: RCV000417286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gln518Glu
CA16602343
NM_001195800.2:c.1552C>G