Allele Registry

Canonical Allele Identifier: PA645511044

Gene: CNGB1 HGNC NCBI

ClinVar RCV:

RCV000504924

RCV002524402

RCV003989545

ClinVar Variation:

437972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001288.3:p.Arg762His	CA8083082 NM_001297.5:c.2285G>A