Allele Registry

Canonical Allele Identifier: PA127086

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000018655

RCV000248578

RCV000711309

ClinVar Variation:

17118

HGVS (amino-acid)	Matching Registered Transcripts
NP_085059.2:p.Asp1437Asn	CA127084 NM_030582.4:c.4309G>A