Allele Registry

Canonical Allele Identifier: PA658804286

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV002233928

ClinVar Variation:

526885

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly493Glu	CA162925217 NM_000089.4:c.1478G>A