Allele Registry

Canonical Allele Identifier: PA2830158854

Gene: COL11A2 HGNC NCBI

ClinVar Allele:

307213

ClinVar RCV:

RCV000291185

RCV000346166

RCV000350359

RCV000386159

RCV001662334

ClinVar Variation:

356406

HGVS (amino-acid)	Matching Registered Transcripts
NP_542412.2:p.Gly375Cys	CA3751368 NM_080681.3:c.1123G>T