Allele Registry

Canonical Allele Identifier: PA915954654

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000811744

ClinVar Variation:

655548

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1166Ser	CA400198666 NM_000088.4:c.3496G>A