Canonical Allele Identifier: PA645375275
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430745
ClinVar RCV Id: RCV000495866 RCV000775020 RCV002307522 RCV003322777 RCV002431443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu28Lys
CA041712
NM_000527.5:c.82G>A