Allele Registry

Canonical Allele Identifier: PA645452455

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000426862

RCV002056678

ClinVar Variation:

392909

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1327Ser	CA8644306 NM_000088.4:c.3979G>A