Allele Registry

Canonical Allele Identifier: PA645398727

Gene: CHD7 HGNC NCBI

ClinVar RCV:

RCV000479619

RCV000624092

RCV000763600

RCV001366746

ClinVar Variation:

418124

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Thr1133Met	CA16618664 NM_017780.4:c.3398C>T