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.Asn2164Lys	CA371325061 XM_011517555.2:c.6492C>A CA371325062 XM_011517555.2:c.6492C>G