Allele Registry

Canonical Allele Identifier: PA2826840108

Gene: COL8A2 HGNC NCBI

ClinVar RCV:

RCV000018685

RCV000018686

ClinVar Variation:

17147

HGVS (amino-acid)	Matching Registered Transcripts
NP_001281276.1:p.Gln390Lys	CA127106 NM_001294347.2:c.1168C>A