Canonical Allele Identifier: PA645510759
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440551
ClinVar RCV Id: RCV000508858 RCV003766887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile83Thr
CA404075611
NM_000527.5:c.248T>C