Canonical Allele Identifier: PA2830099175
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_149162.2:p.Leu1418_Ter1419insTyrLysProGluProArgAsnAsnThrIleArgCysLysProLysGlyProLysTyrPheProIleSerValThrLeuGlyLeuCysThrGluTrpLeuThr
CA384533061
NM_033150.3:c.4257A>T
CA384533062
NM_033150.3:c.4257A>C