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_011515855.1:p.Met995Leu	CA371309044 XM_011517553.2:c.2983A>C CA371309046 XM_011517553.2:c.2983A>T