Allele Registry

Canonical Allele Identifier: PA250679

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV002509163

ClinVar Variation:

17367

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Gly840Cys	CA250678 NM_033150.3:c.2518G>T