Allele Registry

Canonical Allele Identifier: PA645416314

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000317732

RCV000372472

RCV001753770

ClinVar Variation:

308930

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Thr335Ser	CA6535669 NM_001844.5:c.1004C>G CA384555632 NM_001844.5:c.1003A>T