Allele Registry

Canonical Allele Identifier: PA645399331

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000485513

ClinVar Variation:

423118

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Leu1363His	CA16618668 NM_017780.4:c.4088T>A