Allele Registry

Canonical Allele Identifier: PA2830099063

Gene: COL2A1 HGNC NCBI

ClinVar Allele:

325001

ClinVar RCV:

RCV000350564

RCV000396722

RCV001344740

ClinVar Variation:

308904

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Arg1353Trp	CA6534511 NM_033150.3:c.4057C>T