Allele Registry

Canonical Allele Identifier: PA645416775

Gene: COL2A1 HGNC NCBI

ClinVar Allele:

325001

ClinVar RCV:

RCV000350564

RCV000396722

RCV001344740

ClinVar Variation:

308904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Arg1422Trp	CA6534511 NM_001844.5:c.4264C>T