Canonical Allele Identifier: PA100486
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251592
ClinVar RCV Id: RCV000238172 RCV000816844 RCV001549448
ClinVar Variation Id: 955980
ClinVar RCV Id: RCV001228707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys338Ser
CA10585245
NM_000527.5:c.1012T>A
CA404082734
NM_000527.5:c.1013G>C