Allele Registry

Canonical Allele Identifier: PA645452012

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000441682

ClinVar Variation:

392573

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly644Ser	CA16608529 NM_000088.4:c.1930G>A