Allele Registry

Canonical Allele Identifier: PA645451847

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490740

RCV000520145

RCV002007244

RCV002279257

RCV002489188

RCV004551605

ClinVar Variation:

425639

1451481

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly257Arg	CA291547584 NM_000088.4:c.769G>A CA400223887 NM_000088.4:c.769G>C