Allele Registry

Canonical Allele Identifier: PA645399517

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000479492

ClinVar Variation:

423762

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Leu2080Pro	CA16618676 NM_017780.4:c.6239T>C