Allele Registry

Canonical Allele Identifier: PA2573270474

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV002009052

ClinVar Variation:

1488074

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Gln2298Glu	CA371295116 NM_017780.4:c.6892C>G