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
ENSP00000512218.1:p.Arg1693Ser	CA371320303 ENST00000695853.1:c.5079G>C CA371320304 ENST00000695853.1:c.5079G>T