Allele Registry

Canonical Allele Identifier: PA098889

Gene: COL1A2 HGNC NCBI

ClinVar Allele:

492431

ClinVar RCV:

RCV000596743

RCV002232561

ClinVar Variation:

501007

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly754Cys	CA162936060 NM_000089.4:c.2260G>T