Allele Registry

Canonical Allele Identifier: PA257832

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018833

RCV002464069

ClinVar Variation:

17292

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly869Cys	CA257830 NM_000088.4:c.2605G>T