Allele Registry

Canonical Allele Identifier: PA1139692163

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV002241147

ClinVar Variation:

950425

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly391Cys	CA162921173 NM_000089.4:c.1171G>T