Allele Registry

Canonical Allele Identifier: PA913197908

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000770775

RCV003313143

ClinVar Variation:

626218

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Gln2438Glu	CA371300770 NM_017780.4:c.7312C>G