Allele Registry

Canonical Allele Identifier: PA2830122782

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV000279813

RCV000338595

RCV001660559

ClinVar Variation:

291499

HGVS (amino-acid)	Matching Registered Transcripts
NP_542197.3:p.Pro1416Ala	CA973471 NM_080630.4:c.4246C>G