Allele Registry

Canonical Allele Identifier: PA2830158911

Gene: COL11A2 HGNC NCBI

ClinVar RCV:

RCV000171392

RCV000998580

ClinVar Variation:

191205

HGVS (amino-acid)	Matching Registered Transcripts
NP_542412.2:p.Arg450Gln	CA236250 NM_080681.3:c.1349G>A