Allele Registry

Canonical Allele Identifier: PA101390

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000002105

ClinVar Variation:

2027

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Arg2319Ser	CA252056 NM_017780.4:c.6955C>A