Allele Registry

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Canonical Allele Identifier: PA645379508

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226373

ClinVar RCV Id: RCV000211702

ClinVar Variation Id: 843511

ClinVar RCV Id: RCV001046157

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly593del	CA10576319 NM_000527.5:c.1776_1778del CA916081226 NM_000527.5:c.1773_1776delinsT