Canonical Allele Identifier: PA645380215
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_000518.1:p.Gln686Glu
CA16602343
NM_000527.5:c.2056C>G