Allele Registry

Canonical Allele Identifier: PA257820

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018829

RCV000490665

ClinVar Variation:

17288

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly704Cys	CA257818 NM_000088.4:c.2110G>T