Canonical Allele Identifier: PA645375830
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251174
ClinVar RCV Id: RCV000237922 RCV001857823 RCV002450744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys121Arg
CA10584873
NM_000527.5:c.361T>C