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_011515859.1:p.Val350Leu	CA371309629 XM_011517557.1:c.1048G>T CA371309632 XM_011517557.1:c.1048G>C