Canonical Allele Identifier: PA916001257
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252295
ClinVar RCV Id: RCV000238445 RCV001523921 RCV001558972 RCV002247687 RCV003372668
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile792Thr
CA040016
NM_001195798.2:c.2375T>C