Allele Registry

Canonical Allele Identifier: PA257862

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018843

ClinVar Variation:

17302

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1187Ser	CA257860 NM_000088.4:c.3559G>A