Allele Registry

Canonical Allele Identifier: PA1139749211

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000375403

RCV001861181

ClinVar Variation:

340258

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Gly1354Ser	CA10067482 NM_130444.2:c.4060G>A