Canonical Allele Identifier: PA658804388
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 523715
ClinVar RCV Id: RCV000627169 RCV001199891 RCV000775610 RCV002420657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp360His
CA031936
NM_000527.5:c.1078G>C