Allele Registry

Canonical Allele Identifier: PA645452394

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490739

RCV000586484

RCV000755941

RCV001814161

RCV002281097

ClinVar Variation:

425589

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1169Ser	CA291542908 NM_000088.4:c.3505G>A