Allele Registry

Canonical Allele Identifier: PA2830167833

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV002633638

ClinVar Variation:

2196395

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Gly1334Ala	CA410499147 NM_130444.2:c.4001G>C