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
NP_060250.2:p.Trp1994Cys	CA371323854 NM_017780.4:c.5982G>C CA371323855 NM_017780.4:c.5982G>T