Allele Registry

Canonical Allele Identifier: PA645454033

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000307937

RCV000404554

RCV000659378

RCV001718783

RCV002229911

RCV002429325

ClinVar Variation:

360961

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Asn723Ser	CA4347339 NM_000089.4:c.2168A>G