Allele Registry

Canonical Allele Identifier: PA645451898

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490671

ClinVar Variation:

425592

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly353Ser	CA291546912 NM_000088.4:c.1057G>A