Canonical Allele Identifier: PA645378249
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 228798
ClinVar RCV Id: RCV000223047 RCV000238261 RCV001381623 RCV002354607 RCV003325470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg406Gln
CA033088
NM_000527.5:c.1217G>A