Allele Registry

Canonical Allele Identifier: PA260350

Gene: COL1A2 HGNC NCBI

ClinVar Allele:

44603

ClinVar RCV:

RCV000029595

RCV001781322

RCV002513242

ClinVar Variation:

35939

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly664Asp	CA260348 NM_000089.4:c.1991G>A