Allele Registry

Canonical Allele Identifier: PA2828834224

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000489683

ClinVar Variation:

427063

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366429.1:p.Gly1283Trp	CA410502175 NM_001379500.1:c.3847G>T