Allele Registry

Canonical Allele Identifier: PA2830167824

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV002004102

RCV002290834

RCV005317046

ClinVar Variation:

1505525

3835060

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Gly1325Arg	CA10067440 NM_130444.2:c.3973G>A CA10067441 NM_130444.2:c.3973G>C