Canonical Allele Identifier: PA645375651
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251114
ClinVar RCV Id: RCV000237726 RCV000775029 RCV002436071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys95Phe
CA10584827
NM_000527.5:c.284G>T