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_011515860.1:p.Leu1004Phe	CA371321287 XM_011517558.1:c.3012A>C CA371321288 XM_011517558.1:c.3012A>T