Canonical Allele Identifier: PA645380909
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252347
ClinVar RCV Id: RCV000237637 RCV000456063 RCV001509016 RCV002429178 RCV003581646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val836Ile
CA10585875
NM_000527.5:c.2506G>A