Allele Registry

Canonical Allele Identifier: PA2830097690

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000246694

RCV000328788

RCV000364743

RCV000885233

RCV002277622

RCV002500885

ClinVar Variation:

258220

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Thr569Ile	CA6535326 NM_033150.3:c.1706C>T