Allele Registry

Canonical Allele Identifier: PA645398690

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000464132

ClinVar Variation:

411188

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Trp1031Cys	CA16612341 NM_017780.4:c.3093G>C CA371309874 NM_017780.4:c.3093G>T