Allele Registry

Canonical Allele Identifier: PA101760

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000002111

RCV000030798

ClinVar Variation:

2033

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Ser834Phe	CA130114 NM_017780.4:c.2501C>T