Allele Registry

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Canonical Allele Identifier: PA113623

Gene: C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2126

ClinVar RCV Id: RCV000002208 RCV001074679 RCV001245416

ClinVar Variation Id: 865771

ClinVar RCV Id: RCV001073255 RCV001240047

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265360.1:p.Ser163Arg	CA017306 NM_001278431.2:c.489C>G CA382968878 NM_001278431.2:c.489C>A CA382968886 NM_001278431.2:c.487A>C