Allele Registry

Canonical Allele Identifier: PA257865

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018851

ClinVar Variation:

17310

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly719Asp	CA257863 NM_000088.4:c.2156G>A