Canonical Allele Identifier: PA2825208462
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 889871
ClinVar RCV Id: RCV001124033 RCV002451333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Phe114Ile
CA305296741
NM_000527.5:c.340T>A