Allele Registry

Canonical Allele Identifier: PA658669042

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000518754

RCV002231000

ClinVar Variation:

447156

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly319Glu	CA368220866 NM_000089.4:c.956G>A