Allele Registry

Canonical Allele Identifier: PA2573161708

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV002033708

RCV002287521

ClinVar Variation:

1488079

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly625Cys	CA368222785 NM_000089.4:c.1873G>T