Allele Registry

Canonical Allele Identifier: PA645416460

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000246694

RCV000328788

RCV000364743

RCV000885233

RCV002277622

RCV002500885

ClinVar Variation:

258220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Thr638Ile	CA6535326 NM_001844.5:c.1913C>T