Allele Registry

Canonical Allele Identifier: PA101633

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000445135

RCV001266874

ClinVar Variation:

381565

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Leu1020Ser	CA16605400 NM_017780.4:c.3059T>C