Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: COLQ HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000474271.1:p.Glu214Ter	ENST00000603808.5:c.[636del;639T>G;641A>T... ENST00000603808.5:c.[636del;639T>G;641A>T... ENST00000603808.5:c.[636del;639T>G;641A>T... ENST00000603808.5:c.640G>T