Allele Registry

Canonical Allele Identifier: PA2830167832

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV001949865

ClinVar Variation:

1426974

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Gly1334Arg	CA410499143 NM_130444.2:c.4000G>A CA410499144 NM_130444.2:c.4000G>C