Allele Registry

Canonical Allele Identifier: PA645453925

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000490690

RCV001575452

RCV001778978

RCV002230965

RCV002279259

ClinVar Variation:

425645

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly391Ser	CA162921172 NM_000089.4:c.1171G>A