Allele Registry

Canonical Allele Identifier: PA127180

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018940

RCV001851926

ClinVar Variation:

17396

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Gly249Arg	CA127179 NM_033150.3:c.745G>A CA384521786 NM_033150.3:c.745G>C