Allele Registry

Canonical Allele Identifier: PA101566

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000002110

ClinVar Variation:

2032

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Gly2108Arg	CA252062 NM_017780.4:c.6322G>A CA371324788 NM_017780.4:c.6322G>C