Allele Registry

Canonical Allele Identifier: PA645451903

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490181

ClinVar Variation:

426120

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly359Glu	CA400220137 NM_000088.4:c.1076G>A