Allele Registry

Canonical Allele Identifier: PA097761

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018912

RCV000988828

RCV001385337

RCV003228897

RCV003323361

ClinVar Variation:

17368

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Arg275Cys	CA127158 NM_001844.5:c.823C>T