Canonical Allele Identifier: PA645375776
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 225402
ClinVar RCV Id: RCV000237176 RCV000771221 RCV001788071 RCV002460059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg115His
CA043240
NM_000527.5:c.344G>A