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
ENSP00000437061.1:p.Met750Leu
CA371308924
ENST00000524602.5:c.2248A>C
CA371308928
ENST00000524602.5:c.2248A>T