Canonical Allele Identifier: PA645379293
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252001
ClinVar RCV Id: RCV000237252 RCV000791446 RCV001529326 RCV002411087
ClinVar Variation Id: 2174859
ClinVar RCV Id: RCV002599006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp577Arg
CA10585584
NM_000527.5:c.1729T>C
CA404089687
NM_000527.5:c.1729T>A