Allele Registry

Canonical Allele Identifier: PA645398713

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000480751

ClinVar Variation:

422043

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.His1078Tyr	CA16618662 NM_017780.4:c.3232C>T