Allele Registry

Canonical Allele Identifier: PA127164

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018922

RCV000414959

RCV000513905

ClinVar Variation:

17379

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Arg835Cys	CA127163 NM_033150.3:c.2503C>T