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: CHD7 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000392028.1:p.Arg2716Ser	CA371307373 ENST00000423902.7:c.8148A>T CA371307374 ENST00000423902.7:c.8148A>C