Allele Registry

Canonical Allele Identifier: PA645416796

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000312017

RCV000402928

RCV001235510

ClinVar Variation:

308903

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Arg1459Cys	CA6534469 NM_001844.5:c.4375C>T