Allele Registry

Canonical Allele Identifier: PA2830130363

Gene: COL11A2 HGNC NCBI

ClinVar Allele:

174502

ClinVar RCV:

RCV000150349

RCV000764645

RCV001560335

ClinVar Variation:

162981

HGVS (amino-acid)	Matching Registered Transcripts
NP_542410.2:p.Pro1240Gln	CA175561 NM_080679.3:c.3719C>A