Canonical Allele Identifier: PA100705
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251801
ClinVar RCV Id: RCV000238589 RCV003581622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile451Thr
CA10585417
NM_000527.5:c.1352T>C