Allele Registry

Canonical Allele Identifier: PA645453885

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000489404

ClinVar Variation:

426918

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly379Glu	CA368221227 NM_000089.4:c.1136G>A