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
XP_011515857.1:p.Asn2246Lys	CA371326026 XM_011517555.2:c.6738T>G CA371326027 XM_011517555.2:c.6738T>A