Allele Registry

Canonical Allele Identifier: PA127159

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018912

RCV000988828

RCV001385337

RCV003228897

RCV003323361

ClinVar Variation:

17368

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Arg206Cys	CA127158 NM_033150.3:c.616C>T