Allele Registry

Canonical Allele Identifier: PA658668591

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000558433

RCV001946807

ClinVar Variation:

456797

1456151

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly266Arg	CA400223710 NM_000088.4:c.796G>C CA400223713 NM_000088.4:c.796G>A