Allele Registry

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Canonical Allele Identifier: PA2826214447

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183098

ClinVar RCV Id: RCV000161969 RCV000238570 RCV002444669 RCV003741152

ClinVar Variation Id: 977996

ClinVar RCV Id: RCV001255952

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Phe114Leu	CA023778 NM_001195800.2:c.342C>A CA404080610 NM_001195800.2:c.340T>C CA404080626 NM_001195800.2:c.342C>G