Allele Registry

Canonical Allele Identifier: PA2830167825

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV001955433

RCV002562106

RCV003401927

ClinVar Variation:

1437174

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Arg1330Gln	CA10067444 NM_130444.2:c.3989G>A