Allele Registry

Canonical Allele Identifier: PA916058736

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000018655

RCV000248578

RCV000711309

ClinVar Variation:

17118

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Asp1672Asn	CA127084 NM_130444.2:c.5014G>A