Allele Registry

Canonical Allele Identifier: PA645452082

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490757

RCV000548232

RCV001572316

ClinVar Variation:

425610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly821Ser	CA291543310 NM_000088.4:c.2461G>A