Allele Registry

Canonical Allele Identifier: PA658669000

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000991603

RCV002231244

ClinVar Variation:

456836

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly130Asp	CA162914426 NM_000089.4:c.389G>A