Allele Registry

Canonical Allele Identifier: PA645454144

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000274353

RCV000369007

RCV001861311

ClinVar Variation:

360972

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Thr1252Ala	CA4347849 NM_000089.4:c.3754A>G