Allele Registry

Canonical Allele Identifier: PA645416221

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000483696

ClinVar Variation:

418662

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Trp47Arg	CA16619531 NM_001844.5:c.139T>C CA384526541 NM_001844.5:c.139T>A