Allele Registry

Canonical Allele Identifier: PA101642

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000002101

ClinVar Variation:

2023

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Leu1257Arg	CA252051 NM_017780.4:c.3770T>G