Allele Registry

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Canonical Allele Identifier: PA235414

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_000518.1:p.Phe282Leu	CA023778 NM_000527.5:c.846C>A CA404080610 NM_000527.5:c.844T>C CA404080626 NM_000527.5:c.846C>G