Allele Registry

Canonical Allele Identifier: PA100763

Gene: COL8A2 HGNC NCBI

ClinVar RCV:

RCV000018685

RCV000018686

ClinVar Variation:

17147

HGVS (amino-acid)	Matching Registered Transcripts
NP_005193.1:p.Gln455Lys	CA127106 NM_005202.4:c.1363C>A