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_011515861.1:p.Asp486Glu	CA371319134 XM_011517559.1:c.1458T>A CA371319135 XM_011517559.1:c.1458T>G