Canonical Allele Identifier: PA2830099170
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_149162.2:p.Leu1418_Ter1419insGluLysProGluProArgAsnAsnThrIleArgCysLysProLysGlyProLysTyrPheProIleSerValThrLeuGlyLeuCysThrGluTrpLeuThr
CA384533065
NM_033150.3:c.4255T>G