Allele Registry

Canonical Allele Identifier: PA645453794

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000414693

RCV001861415

ClinVar Variation:

372734

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly196Cys	CA16042602 NM_000089.4:c.586G>T