Allele Registry

Canonical Allele Identifier: PA2830167828

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV002953847

ClinVar Variation:

2064988

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Ala1333Val	CA410499140 NM_130444.2:c.3998C>T