Allele Registry

Canonical Allele Identifier: PA916058581

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000517619

RCV000764262

RCV000766954

RCV002527466

RCV004553126

ClinVar Variation:

447131

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Arg172His	CA10065497 NM_130444.2:c.515G>A