Allele Registry

Canonical Allele Identifier: PA175562

Gene: COL11A2 HGNC NCBI

ClinVar RCV:

RCV000150349

RCV000764645

RCV001560335

ClinVar Variation:

162981

HGVS (amino-acid)	Matching Registered Transcripts
NP_542411.2:p.Pro1347Gln	CA175561 NM_080680.3:c.4040C>A