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_016869102.1:p.Arg1749Ser	CA371320832 XM_017013613.1:c.5247A>C CA371320833 XM_017013613.1:c.5247A>T