Allele Registry

Canonical Allele Identifier: PA250675

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV002280862

ClinVar Variation:

17363

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly354Arg	CA250673 NM_001844.5:c.1060G>A CA384555425 NM_001844.5:c.1060G>C