Allele Registry

Canonical Allele Identifier: PA658804227

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000631491

ClinVar Variation:

526863

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly269Arg	CA400222713 NM_000088.4:c.805G>C