Allele Registry

Canonical Allele Identifier: PA233731

Gene: CHD7 HGNC NCBI

ClinVar Variation Id: 166870

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Glu2191Lys	CA233729 NM_017780.4:c.6571G>A