Allele Registry

Canonical Allele Identifier: PA645399659

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000224986

RCV001731455

RCV003417801

ClinVar Variation:

235889

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Arg2319Cys	CA10581478 NM_017780.4:c.6955C>T