Allele Registry

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Canonical Allele Identifier: PA2825208504

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 869388

ClinVar RCV Id: RCV001249594

ClinVar Variation Id: 1737013

ClinVar RCV Id: RCV002357847

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys134Ser	CA404076356 NM_000527.5:c.400T>A CA404076358 NM_000527.5:c.401G>C