Allele Registry

Canonical Allele Identifier: PA250706

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000022483

ClinVar Variation:

17403

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly546Val	CA250704 NM_001844.5:c.1637G>T