Allele Registry

Canonical Allele Identifier: PA658804237

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000631487

RCV003139957

RCV004547777

ClinVar Variation:

526860

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly560Cys	CA291545054 NM_000088.4:c.1678G>T