Allele Registry

Canonical Allele Identifier: PA257895

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018868

ClinVar Variation:

17327

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly743Val	CA257893 NM_000088.4:c.2228G>T