Allele Registry

Canonical Allele Identifier: PA915954448

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV001002442

RCV001385147

RCV001547154

RCV001822862

ClinVar Variation:

811940

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly704Ser	CA291544042 NM_000088.4:c.2110G>A