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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000512218.1:p.Glu2192Asp
CA371325790
ENST00000695853.1:c.6576G>C
CA371325791
ENST00000695853.1:c.6576G>T