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
ENSP00000515139.1:p.Ser612Arg	CA371312312 ENST00000700671.1:c.1834A>C CA371312334 ENST00000700671.1:c.1836T>G CA371312337 ENST00000700671.1:c.1836T>A