Allele Registry

Canonical Allele Identifier: PA658669133

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000519428

RCV002231208

ClinVar Variation:

449351

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly796Ala	CA162937261 NM_000089.4:c.2387G>C