Allele Registry

Canonical Allele Identifier: PA250674

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV002280862

RCV005124232

ClinVar Variation:

17363

3645321

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Gly285Arg	CA250673 NM_033150.3:c.853G>A CA384555425 NM_033150.3:c.853G>C