Allele Registry

Canonical Allele Identifier: PA2826840109

Gene: COL8A2 HGNC NCBI

ClinVar RCV:

RCV000154184

ClinVar Variation:

167868

HGVS (amino-acid)	Matching Registered Transcripts
NP_001281276.1:p.Gln390Val	CA250301 NM_001294347.2:c.1168_1169delinsGT