Allele Registry

Canonical Allele Identifier: PA236251

Gene: COL11A2 HGNC NCBI

ClinVar RCV:

RCV000171392

RCV000998580

ClinVar Variation:

191205

HGVS (amino-acid)	Matching Registered Transcripts
NP_542411.2:p.Arg536Gln	CA236250 NM_080680.3:c.1607G>A