Allele Registry

Canonical Allele Identifier: PA204552

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018928

RCV000190574

RCV001299254

ClinVar Variation:

17385

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Thr1370Met	CA204551 NM_033150.3:c.4109C>T