Allele Registry

Canonical Allele Identifier: PA645452202

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000478094

RCV002279243

RCV003333748

ClinVar Variation:

420061

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1022Val	CA16620475 NM_000088.4:c.3065G>T