Canonical Allele Identifier: PA2829344917
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705711
ClinVar RCV Id: RCV002284025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Leu1487_Ter1488insTyrLysProGluProArgAsnAsnThrIleArgCysLysProLysGlyProLysTyrPheProIleSerValThrLeuGlyLeuCysThrGluTrpLeuThr
CA384533061
NM_001844.5:c.4464A>T
CA384533062
NM_001844.5:c.4464A>C