Allele Registry

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Canonical Allele Identifier: PA2829344919

Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739355

ClinVar RCV Id: RCV003555462

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Leu1487_Ter1488insGluLysProGluProArgAsnAsnThrIleArgCysLysProLysGlyProLysTyrPheProIleSerValThrLeuGlyLeuCysThrGluTrpLeuThr	CA384533065 NM_001844.5:c.4462T>G