Allele Registry

Canonical Allele Identifier: PA2830036003

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000375403

RCV001861181

ClinVar Variation:

340258

HGVS (amino-acid)	Matching Registered Transcripts
NP_085059.2:p.Gly1119Ser	CA10067482 NM_030582.4:c.3355G>A