Allele Registry

Canonical Allele Identifier: PA645451807

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

414025

ClinVar RCV:

RCV000490693

RCV001269743

ClinVar Variation:

425635

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly197Cys	CA291548135 NM_000088.4:c.589G>T