Allele Registry

Canonical Allele Identifier: PA2830167489

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000287059

RCV001351474

RCV002523184

ClinVar Variation:

340229

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Ala1002Val	CA10066533 NM_130444.2:c.3005C>T