Canonical Allele Identifier: PA645378725
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251853
ClinVar RCV Id: RCV000237482 RCV001177033
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser486Asn
CA10585463
NM_000527.5:c.1457G>A